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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(HPS4 His601Tyr)
Short summary
PolyPhen2: Possibly damaging 0.993 SIFT: Affect protein function 0.00 GVGD: Class C65
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 A @ chr22:26854441
hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983 hom A @ chr22:26854441
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 hom A @ chr22:26854441
hu04FD18 - CGI sample GS00253-DNA_F01_200_37 het A @ chr22:26854441
hu0D879F - CGI sample GS00253-DNA_G01_200_37 hom A @ chr22:26854441
hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523 hom A @ chr22:26854441
hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants hom A @ chr22:25184441
hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491 het A @ chr22:26854441
hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565 hom A @ chr22:26854441
hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598 hom A @ chr22:26854441
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants hom A @ chr22:25184441
hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370 hom A @ chr22:26854441
hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome hom A @ chr22:26854441
hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424 het A @ chr22:26854441
hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289 hom A @ chr22:26854441
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 hom A @ chr22:26854441
hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272 hom A @ chr22:26854441
hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469 hom A @ chr22:26854441
hu43860C - CGI sample GS00253-DNA_A01_200_37 hom A @ chr22:26854441
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372 hom A @ chr22:26854441
hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241 hom A @ chr22:26854441
hu604D39 - CGI sample GS00253-DNA_B02_200_37 hom A @ chr22:26854441
hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532 hom A @ chr22:26854441
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants hom A @ chr22:25184441
hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372 hom A @ chr22:26854441
hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046 het A @ chr22:26854441
hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009 het A @ chr22:26854441
hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586 hom A @ chr22:26854441
hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426 hom A @ chr22:26854441
hu9385BA - CGI sample GS00253-DNA_E01_200_37 hom A @ chr22:26854441
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 hom A @ chr22:26854441
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909 hom A @ chr22:26854441
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107 hom A @ chr22:26854441
huAE6220 - CGI sample GS00253-DNA_H01_200_37 hom A @ chr22:26854441
huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538 hom A @ chr22:26854441
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 hom A @ chr22:26854441
huBEDA0B - CGI sample GS00253-DNA_C01_200_37 hom A @ chr22:26854441
huC30901 - CGI sample GS00253-DNA_B01_200_37 hom A @ chr22:26854441
huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034 het A @ chr22:26854441
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 hom A @ chr22:26854441
huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604 hom A @ chr22:26854441
huE80E3D - CGI sample GS00253-DNA_D01_200_37 hom A @ chr22:26854441
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191 hom A @ chr22:26854441
huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581 hom A @ chr22:26854441
GS06985 - var-GS06985-1100-36-ASM het A @ chr22:25184441
GS06994 - var-GS06994-1100-36-ASM het A @ chr22:25184441
GS07357 - var-GS07357-1100-36-ASM hom A @ chr22:25184441
GS10851 - var-GS10851-1100-36-ASM hom A @ chr22:25184441
GS12004 - var-GS12004-1100-36-ASM hom A @ chr22:25184441
GS18501 - var-GS18501-1100-36-ASM hom A @ chr22:25184441
GS18502 - var-GS18502-1100-36-ASM het A @ chr22:25184441
GS18504 - var-GS18504-1100-36-ASM hom A @ chr22:25184441
GS18505 - var-GS18505-1100-36-ASM het A @ chr22:25184441
GS18508 - var-GS18508-1100-36-ASM het A @ chr22:25184441
GS18517 - var-GS18517-1100-36-ASM het A @ chr22:25184441
GS18526 - var-GS18526-1100-36-ASM hom A @ chr22:25184441
GS18537 - var-GS18537-1100-36-ASM hom A @ chr22:25184441
GS18555 - var-GS18555-1100-36-ASM het A @ chr22:25184441
GS18558 - var-GS18558-1100-36-ASM het A @ chr22:25184441
GS18940 - var-GS18940-1100-36-ASM het A @ chr22:25184441
GS18942 - var-GS18942-1100-36-ASM het A @ chr22:25184441
GS18947 - var-GS18947-1100-36-ASM hom A @ chr22:25184441
GS18956 - var-GS18956-1100-36-ASM het A @ chr22:25184441
GS19017 - var-GS19017-1100-36-ASM hom A @ chr22:25184441
GS19020 - var-GS19020-1100-36-ASM hom A @ chr22:25184441
GS19025 - var-GS19025-1100-36-ASM het A @ chr22:25184441
GS19129 - var-GS19129-1100-36-ASM het A @ chr22:25184441
GS19238 - var-GS19238-1100-36-ASM het A @ chr22:25184441
GS19239 - var-GS19239-1100-36-ASM het A @ chr22:25184441
GS19240 - var-GS19240-1100-36-ASM hom A @ chr22:25184441
GS19648 - var-GS19648-1100-36-ASM hom A @ chr22:25184441
GS19649 - var-GS19649-1100-36-ASM hom A @ chr22:25184441
GS19669 - var-GS19669-1100-36-ASM hom A @ chr22:25184441
GS19670 - var-GS19670-1100-36-ASM hom A @ chr22:25184441
GS19700 - var-GS19700-1100-36-ASM hom A @ chr22:25184441
GS19701 - var-GS19701-1100-36-ASM hom A @ chr22:25184441
GS19703 - var-GS19703-1100-36-ASM hom A @ chr22:25184441
GS19735 - var-GS19735-1100-36-ASM hom A @ chr22:25184441
GS19834 - var-GS19834-1100-36-ASM hom A @ chr22:25184441
GS20502 - var-GS20502-1100-36-ASM hom A @ chr22:25184441
GS20509 - var-GS20509-1100-36-ASM hom A @ chr22:25184441
GS21767 - var-GS21767-1100-36-ASM het A @ chr22:25184441