rs267608617

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;TCTGCAAAGAGGAGAAGATGCCCAGA)	6	Rett syndrome (if accurately called)
(TCTGCAAAGAGGAGAAGATGCCCAGA;TCTGCAAAGAGGAGAAGATGCCCAGA)	0	common in clinvar

Make rs267608617(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154030568

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs267608617
dbSNP (classic)	rs267608617
ClinGen	rs267608617
ebi	rs267608617
HLI	rs267608617
Exac	rs267608617
Gnomad	rs267608617
Varsome	rs267608617
LitVar	rs267608617
Map	rs267608617
PheGenI	rs267608617
Biobank	rs267608617
1000 genomes	rs267608617
hgdp	rs267608617
ensembl	rs267608617
geneview	rs267608617
scholar	rs267608617
google	rs267608617
pharmgkb	rs267608617
gwascentral	rs267608617
openSNP	rs267608617
23andMe	rs267608617
SNPshot	rs267608617
SNPdbe	rs267608617
MSV3d	rs267608617
GWAS Ctlg	rs267608617

Max Magnitude

6

aka c.1235_1260del26 (p.Val412Glyfs)

23andMe name: i5900852, however, they incorrectly assign the deletion genotype (D;D) as the normal genotype

ClinVar
Risk	rs267608617(-;-)
Alt	rs267608617(-;-)
Reference	Rs267608617(TCTGCAAAGAGGAGAAGATGCCCAGA;TCTGCAAAGAGGAGAAGATGCCCAGA)
Significance	Pathogenic
Disease	Rett syndrome
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome
Reversed	1
HGVS	NC_000023.10:g.153296019_153296044del26
CLNSRC
CLNACC	RCV000132974.2,