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.
Please help improve GET-Evidence by evaluating evidence for this variant!
(LRRK2 Met2397Thr)
Short summary
PolyPhen2: Benign, score 0.000 SIFT: Tolerated 0.33 GVGD: Class C0
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 het C @ chr12:40758652
hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983 hom C @ chr12:40758652
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 hom C @ chr12:40758652
hu04FD18 - CGI sample GS00253-DNA_F01_200_37 het C @ chr12:40758652
hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523 het C @ chr12:40758652
hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants het C @ chr12:39044919
hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491 hom C @ chr12:40758652
hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565 het C @ chr12:40758652
hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598 het C @ chr12:40758652
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants het C @ chr12:39044919
hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370 hom C @ chr12:40758652
hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome het C @ chr12:40758652
hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289 hom C @ chr12:40758652
hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199 hom C @ chr12:40758652
hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272 het C @ chr12:40758652
hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469 het C @ chr12:40758652
hu43860C - CGI sample GS00253-DNA_A01_200_37 het C @ chr12:40758652
hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372 hom C @ chr12:40758652
hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241 het C @ chr12:40758652
hu604D39 - CGI sample GS00253-DNA_B02_200_37 het C @ chr12:40758652
hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532 het C @ chr12:40758652
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants hom C @ chr12:39044919
hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372 hom C @ chr12:40758652
hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046 het C @ chr12:40758652
hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009 het C @ chr12:40758652
hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586 hom C @ chr12:40758652
hu9385BA - CGI sample GS00253-DNA_E01_200_37 het C @ chr12:40758652
huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671 het C @ chr12:40758652
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909 hom C @ chr12:40758652
huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107 hom C @ chr12:40758652
huAE6220 - CGI sample GS00253-DNA_H01_200_37 hom C @ chr12:40758652
huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538 het C @ chr12:40758652
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981 het C @ chr12:40758652
huC30901 - CGI sample GS00253-DNA_B01_200_37 het C @ chr12:40758652
huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034 het C @ chr12:40758652
huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228 het C @ chr12:40758652
huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604 hom C @ chr12:40758652
huE80E3D - CGI sample GS00253-DNA_D01_200_37 hom C @ chr12:40758652
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191 het C @ chr12:40758652
huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581 hom C @ chr12:40758652
GS06985 - var-GS06985-1100-36-ASM hom C @ chr12:39044919
GS06994 - var-GS06994-1100-36-ASM het C @ chr12:39044919
GS10851 - var-GS10851-1100-36-ASM het C @ chr12:39044919
GS12004 - var-GS12004-1100-36-ASM het C @ chr12:39044919
GS18501 - var-GS18501-1100-36-ASM het C @ chr12:39044919
GS18502 - var-GS18502-1100-36-ASM het C @ chr12:39044919
GS18504 - var-GS18504-1100-36-ASM het C @ chr12:39044919
GS18508 - var-GS18508-1100-36-ASM het C @ chr12:39044919
GS18517 - var-GS18517-1100-36-ASM hom C @ chr12:39044919
GS18526 - var-GS18526-1100-36-ASM het C @ chr12:39044919
GS18558 - var-GS18558-1100-36-ASM het C @ chr12:39044919
GS18940 - var-GS18940-1100-36-ASM het C @ chr12:39044919
GS18942 - var-GS18942-1100-36-ASM het C @ chr12:39044919
GS18956 - var-GS18956-1100-36-ASM hom C @ chr12:39044919
GS19017 - var-GS19017-1100-36-ASM het C @ chr12:39044919
GS19020 - var-GS19020-1100-36-ASM het C @ chr12:39044919
GS19025 - var-GS19025-1100-36-ASM het C @ chr12:39044919
GS19026 - var-GS19026-1100-36-ASM het C @ chr12:39044919
GS19129 - var-GS19129-1100-36-ASM het C @ chr12:39044919
GS19238 - var-GS19238-1100-36-ASM het C @ chr12:39044919
GS19239 - var-GS19239-1100-36-ASM het C @ chr12:39044919
GS19240 - var-GS19240-1100-36-ASM het C @ chr12:39044919
GS19648 - var-GS19648-1100-36-ASM het C @ chr12:39044919
GS19649 - var-GS19649-1100-36-ASM het C @ chr12:39044919
GS19669 - var-GS19669-1100-36-ASM het C @ chr12:39044919
GS19670 - var-GS19670-1100-36-ASM het C @ chr12:39044919
GS19701 - var-GS19701-1100-36-ASM het C @ chr12:39044919
GS19703 - var-GS19703-1100-36-ASM het C @ chr12:39044919
GS20502 - var-GS20502-1100-36-ASM hom C @ chr12:39044919
GS20509 - var-GS20509-1100-36-ASM het C @ chr12:39044919
GS21767 - var-GS21767-1100-36-ASM hom C @ chr12:39044919