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rs61754424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1.9 Probably Benign Rett Syndrome genotype: Feedback Welcome
Make rs61754424(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032538
GeneMECP2
is asnp
is mentioned by
dbSNPrs61754424
ebirs61754424
HLIrs61754424
Exacrs61754424
Varsomers61754424
Maprs61754424
PheGenIrs61754424
hapmaprs61754424
1000 genomesrs61754424
hgdprs61754424
ensemblrs61754424
gopubmedrs61754424
geneviewrs61754424
scholarrs61754424
googlers61754424
pharmgkbrs61754424
gwascentralrs61754424
openSNPrs61754424
23andMers61754424
23andMe allrs61754424
SNP Nexus

SNPshotrs61754424
SNPdbers61754424
MSV3drs61754424
GWAS Ctlgrs61754424
Max Magnitude1.9

rs61754424, also known as c.82C>T, p.Gln28Ter and Q16X, is a mutation in the MECP2 gene on the X chromosome.

The rare rs61754424(T) variant is listed in ClinVar as a pathogenic mutation leading to Rett syndrome, apparently based on it's listing in the RettBase as a nonsense mutation that is disease associated.

However, we have been unable to find verification for this, and multiple carriers who have run Promethease reports report no issues with Rett syndrome, so the minor allele appears to actually be benign. If you know of someone who is rs61754424(C;T) , please feel free to contact us if you can say if the person is healthy, or, has symptoms of Rett syndrome.


ClinVar
Risk rs61754424(T;T)
Alt rs61754424(T;T)
Reference rs61754424(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene MECP2
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.153297989G>A
CLNSRC
CLNACC RCV000133124.2,