rs199469705

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs199469705(C;T)

Make rs199469705(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

14564841

Gene

TECR

is a	snp
is	mentioned by
dbSNP	rs199469705
dbSNP (classic)	rs199469705
ClinGen	rs199469705
ebi	rs199469705
HLI	rs199469705
Exac	rs199469705
Gnomad	rs199469705
Varsome	rs199469705
LitVar	rs199469705
Map	rs199469705
PheGenI	rs199469705
Biobank	rs199469705
1000 genomes	rs199469705
hgdp	rs199469705
ensembl	rs199469705
geneview	rs199469705
scholar	rs199469705
google	rs199469705
pharmgkb	rs199469705
gwascentral	rs199469705
openSNP	rs199469705
23andMe	rs199469705
SNPshot	rs199469705
SNPdbe	rs199469705
MSV3d	rs199469705
GWAS Ctlg	rs199469705

Max Magnitude

0

ClinVar
Risk	rs199469705(T;T)
Alt	rs199469705(T;T)
Reference	Rs199469705(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	TECR
CLNDBN	Mental retardation, autosomal recessive 14
Reversed	0
HGVS	NC_000019.9:g.14675653C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023795.3,

[PMID 21212097 ] Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.