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rs76992529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 TTR-related cardiac amyloidosis
(A;G) 5 TTR-related cardiac amyloidosis
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome18
Position31598655
GeneTTR
is asnp
is mentioned by
dbSNPrs76992529
ClinGenrs76992529
ebirs76992529
HLIrs76992529
Exacrs76992529
Varsomers76992529
Maprs76992529
PheGenIrs76992529
hapmaprs76992529
1000 genomesrs76992529
hgdprs76992529
ensemblrs76992529
gopubmedrs76992529
geneviewrs76992529
scholarrs76992529
googlers76992529
pharmgkbrs76992529
gwascentralrs76992529
openSNPrs76992529
23andMers76992529
23andMe allrs76992529
SNP Nexus

SNPshotrs76992529
SNPdbers76992529
MSV3drs76992529
GWAS Ctlgrs76992529
Merged fromRs28933980
GMAF0.005969
Max Magnitude5

rs76992529, also known as V122I, Val122Ile, V142I or Val142Ile, is a mutation in the transthyretin [[TTR] gene. This risk allele for this SNP, rs76992529(A), is found primarily in people of African ancestry, and may be found in up to 4% of African-Americans.

A person with one or two copies of the (A) allele of this SNP is at significantly higher (by about 2 - 3 fold) risk of developing cardiac amyloidosis, in which levels of the transthyretin protein build up and can lead to heart failure, especially with increasing age.

This SNP is also known as i3002759 and i6019130 within 23andMe data.

OMIM176300
Desc
Variant0009
Relatedalso
ClinVar
Risk Rs76992529(A;A)
Alt Rs76992529(A;A)
Reference Rs76992529(G;G)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis Amyloid Cardiomyopathy not provided Cardiomyopathy Cardiovascular phenotype
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis Amyloid Cardiomyopathy, Transthyretin-related not provided Cardiomyopathy Cardiovascular phenotype
Reversed 0
HGVS NC_000018.9:g.29178618G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014368.26, RCV000030575.1, RCV000078674.7, RCV000211747.1, RCV000243161.1,


[PMID 166310] Letter: Diagnosis of neuronal ceroid lipofuscinosis by electron microscopy of urinary sediment.

[PMID 2237288] Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.

[PMID 11752443OA-icon.png] The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.

[PMID 12874413] Medical errors on an inpatient neurology service.

[PMID 15123043] The hereditary amyloidoses.

[PMID 17503405] Genetic microheterogeneity of human transthyretin detected by IEF.