Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
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(ASPM Tyr2494His)
Short summary
PolyPhen2: Unknown SIFT: Tolerated 1.00 GVGD: GV 83.33; GD 0.00; Class C0 Variant Effect Predictor (Ensembl): SIFT=tolerated(1); PolyPhen=unknown(0) Mutation Tasting Prediction: Polymorphism, P value: 0.999900; protein features (might be) affected.
Impact
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261 hom G @ chr1:197070901
hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983 hom G @ chr1:197070901
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 hom G @ chr1:197070901
hu04FD18 - CGI sample GS00253-DNA_F01_200_37 hom G @ chr1:197070901
hu0D879F - CGI sample GS00253-DNA_G01_200_37 hom G @ chr1:197070901
hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523 hom G @ chr1:197070901
hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants hom G @ chr1:195337524
hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491 hom G @ chr1:197070901
hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565 hom G @ chr1:197070901
hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598 hom G @ chr1:197070901
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants hom G @ chr1:195337524
hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370 hom G @ chr1:197070901
hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome hom G @ chr1:197070901
hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424 hom G @ chr1:197070901
hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289 hom G @ chr1:197070901
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 hom G @ chr1:197070901
hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272 hom G @ chr1:197070901
hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469 hom G @ chr1:197070901
hu43860C - CGI sample GS00253-DNA_A01_200_37 hom G @ chr1:197070901
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372 hom G @ chr1:197070901
hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241 hom G @ chr1:197070901
hu604D39 - CGI sample GS00253-DNA_B02_200_37 hom G @ chr1:197070901
hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532 hom G @ chr1:197070901
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants hom G @ chr1:195337524
hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372 hom G @ chr1:197070901
hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046 hom G @ chr1:197070901
hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009 hom G @ chr1:197070901
hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586 hom G @ chr1:197070901
hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426 hom G @ chr1:197070901
hu9385BA - CGI sample GS00253-DNA_E01_200_37 hom G @ chr1:197070901
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 hom G @ chr1:197070901
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909 hom G @ chr1:197070901
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107 hom G @ chr1:197070901
huAE6220 - CGI sample GS00253-DNA_H01_200_37 hom G @ chr1:197070901
huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538 hom G @ chr1:197070901
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 hom G @ chr1:197070901
huBEDA0B - CGI sample GS00253-DNA_C01_200_37 hom G @ chr1:197070901
huC30901 - CGI sample GS00253-DNA_B01_200_37 hom G @ chr1:197070901
huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034 hom G @ chr1:197070901
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 hom G @ chr1:197070901
huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604 hom G @ chr1:197070901
huE80E3D - CGI sample GS00253-DNA_D01_200_37 hom G @ chr1:197070901
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191 hom G @ chr1:197070901
huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581 hom G @ chr1:197070901
GS06985 - var-GS06985-1100-36-ASM hom G @ chr1:195337524
GS06994 - var-GS06994-1100-36-ASM hom G @ chr1:195337524
GS07357 - var-GS07357-1100-36-ASM hom G @ chr1:195337524
GS10851 - var-GS10851-1100-36-ASM hom G @ chr1:195337524
GS12004 - var-GS12004-1100-36-ASM hom G @ chr1:195337524
GS18501 - var-GS18501-1100-36-ASM hom G @ chr1:195337524
GS18502 - var-GS18502-1100-36-ASM hom G @ chr1:195337524
GS18504 - var-GS18504-1100-36-ASM hom G @ chr1:195337524
GS18505 - var-GS18505-1100-36-ASM hom G @ chr1:195337524
GS18508 - var-GS18508-1100-36-ASM hom G @ chr1:195337524
GS18517 - var-GS18517-1100-36-ASM hom G @ chr1:195337524
GS18526 - var-GS18526-1100-36-ASM hom G @ chr1:195337524
GS18537 - var-GS18537-1100-36-ASM hom G @ chr1:195337524
GS18555 - var-GS18555-1100-36-ASM hom G @ chr1:195337524
GS18558 - var-GS18558-1100-36-ASM hom G @ chr1:195337524
GS18940 - var-GS18940-1100-36-ASM hom G @ chr1:195337524
GS18942 - var-GS18942-1100-36-ASM hom G @ chr1:195337524
GS18947 - var-GS18947-1100-36-ASM hom G @ chr1:195337524
GS18956 - var-GS18956-1100-36-ASM hom G @ chr1:195337524
GS19017 - var-GS19017-1100-36-ASM hom G @ chr1:195337524
GS19020 - var-GS19020-1100-36-ASM hom G @ chr1:195337524
GS19025 - var-GS19025-1100-36-ASM hom G @ chr1:195337524
GS19026 - var-GS19026-1100-36-ASM hom G @ chr1:195337524
GS19129 - var-GS19129-1100-36-ASM hom G @ chr1:195337524
GS19238 - var-GS19238-1100-36-ASM hom G @ chr1:195337524
GS19239 - var-GS19239-1100-36-ASM hom G @ chr1:195337524
GS19240 - var-GS19240-1100-36-ASM hom G @ chr1:195337524
GS19648 - var-GS19648-1100-36-ASM hom G @ chr1:195337524
GS19649 - var-GS19649-1100-36-ASM hom G @ chr1:195337524
GS19669 - var-GS19669-1100-36-ASM hom G @ chr1:195337524
GS19670 - var-GS19670-1100-36-ASM hom G @ chr1:195337524
GS19700 - var-GS19700-1100-36-ASM hom G @ chr1:195337524
GS19701 - var-GS19701-1100-36-ASM hom G @ chr1:195337524
GS19703 - var-GS19703-1100-36-ASM hom G @ chr1:195337524
GS19704 - var-GS19704-1100-36-ASM hom G @ chr1:195337524
GS19735 - var-GS19735-1100-36-ASM hom G @ chr1:195337524
GS19834 - var-GS19834-1100-36-ASM hom G @ chr1:195337524
GS20502 - var-GS20502-1100-36-ASM hom G @ chr1:195337524
GS20509 - var-GS20509-1100-36-ASM hom G @ chr1:195337524
GS21767 - var-GS21767-1100-36-ASM hom G @ chr1:195337524