Have questions? Visit https://www.reddit.com/r/SNPedia

rs145588689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8 Aicardi-Goutieres syndrome
(C;G) 3 Carrier for Aicardi-Goutieres syndrome mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome1
Position154602065
GeneADAR
is asnp
is mentioned by
dbSNPrs145588689
ClinGenrs145588689
ebirs145588689
HLIrs145588689
Exacrs145588689
Varsomers145588689
Maprs145588689
PheGenIrs145588689
hapmaprs145588689
1000 genomesrs145588689
hgdprs145588689
ensemblrs145588689
gopubmedrs145588689
geneviewrs145588689
scholarrs145588689
googlers145588689
pharmgkbrs145588689
gwascentralrs145588689
openSNPrs145588689
23andMers145588689
23andMe allrs145588689
SNP Nexus

SNPshotrs145588689
SNPdbers145588689
MSV3drs145588689
GWAS Ctlgrs145588689
Max Magnitude8

rs145588689, also known as c.577C>G, p.Pro193Ala and P193A, represents a rare mutation in the ADAR gene on chromosome 1.

Inherited recessively, the rs145588689(C) allele - as designated in dbSNP orientation - is considered by BabySeq and most (but not all) submitters to ClinVar as likely to be pathogenic for Aicardi-Goutieres syndrome.

ClinVar
Risk Rs145588689(C;C) rs145588689(T;T)
Alt Rs145588689(C;C) rs145588689(T;T)
Reference Rs145588689(G;G)
Significance Other
Disease Aicardi-goutieres syndrome 6 not provided Symmetrical dyschromatosis of extremities Aicardi Goutieres syndrome
Variation info
Gene ADAR
CLNDBN Aicardi-goutieres syndrome 6 not provided Symmetrical dyschromatosis of extremities Aicardi Goutieres syndrome
Reversed 0
HGVS NC_000001.10:g.154574541G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114336.7, RCV000255775.2, RCV000288094.1, RCV000352411.1,