rs145588689

plus

Geno	Mag	Summary
(C;C)	8	Aicardi-Goutieres syndrome? (pathogenicity unclear)
(C;G)	3	Carrier for Aicardi-Goutieres syndrome mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

1

Position

154602065

Gene

ADAR

is a	snp
is	mentioned by
dbSNP	rs145588689
dbSNP (classic)	rs145588689
ClinGen	rs145588689
ebi	rs145588689
HLI	rs145588689
Exac	rs145588689
Gnomad	rs145588689
Varsome	rs145588689
LitVar	rs145588689
Map	rs145588689
PheGenI	rs145588689
Biobank	rs145588689
1000 genomes	rs145588689
hgdp	rs145588689
ensembl	rs145588689
geneview	rs145588689
scholar	rs145588689
google	rs145588689
pharmgkb	rs145588689
gwascentral	rs145588689
openSNP	rs145588689
23andMe	rs145588689
SNPshot	rs145588689
SNPdbe	rs145588689
MSV3d	rs145588689
GWAS Ctlg	rs145588689

Max Magnitude

8

rs145588689, also known as c.577C>G, p.Pro193Ala and P193A, represents a rare variant 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. It is also considered pathogenic by OMIM, but considered as a variant of uncertain significance by several other databases, including the ADAR gene LOVD.

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,