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rs869025342

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3 Unaffected carrier of a mutation for infantile hypotonia
(G;G) 9 Infantile hypotonia with psychomotor retardation
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position14671194
GeneCCDC174
is asnp
is mentioned by
dbSNPrs869025342
ebirs869025342
HLIrs869025342
Exacrs869025342
Varsomers869025342
Maprs869025342
PheGenIrs869025342
hapmaprs869025342
1000 genomesrs869025342
hgdprs869025342
ensemblrs869025342
gopubmedrs869025342
geneviewrs869025342
scholarrs869025342
googlers869025342
pharmgkbrs869025342
gwascentralrs869025342
openSNPrs869025342
23andMers869025342
23andMe allrs869025342
SNP Nexus

SNPshotrs869025342
SNPdbers869025342
MSV3drs869025342
GWAS Ctlgrs869025342
Max Magnitude9
rs869025342, also known as c.1404A>G, p.Ter468Trp and X468W, is a rare recessive mutation in the CCDC174 gene on chromosome 3 associated with infantile hypotonia with psychomotor retardation.

The (unaffected) carrier frequency in Jewish Ethiopian populations is reported to be 1%, and the mutation appears to be a founder mutation shared with the Israeli Arab Bedouin population.

For more information, see this news article as well as OMIM 616735.0001.

ClinVar
Risk rs869025342(G;G)
Alt rs869025342(G;G)
Reference rs869025342(A;A)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene CCDC174
CLNDBN Hypotonia, infantile, with psychomotor retardation
Reversed 0
HGVS NC_000003.11:g.14712701A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000207515.1,