rs61754424

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	1.9	Probably Benign Rett Syndrome genotype: Feedback Welcome

Make rs61754424(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154032538

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61754424
dbSNP (old)	rs61754424
ClinGen	rs61754424
ebi	rs61754424
HLI	rs61754424
Exac	rs61754424
Gnomad	rs61754424
Varsome	rs61754424
Map	rs61754424
PheGenI	rs61754424
Biobank	rs61754424
1000 genomes	rs61754424
hgdp	rs61754424
ensembl	rs61754424
gopubmed	rs61754424
geneview	rs61754424
scholar	rs61754424
google	rs61754424
pharmgkb	rs61754424
gwascentral	rs61754424
openSNP	rs61754424
23andMe	rs61754424
23andMe all	rs61754424
SNP Nexus
SNPshot	rs61754424
SNPdbe	rs61754424
MSV3d	rs61754424
GWAS Ctlg	rs61754424

Max Magnitude

1.9

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,