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rs199469705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469705(C;T)
Make rs199469705(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position14564841
GeneTECR
is asnp
is mentioned by
dbSNPrs199469705
ebirs199469705
HLIrs199469705
Exacrs199469705
Varsomers199469705
Maprs199469705
PheGenIrs199469705
hapmaprs199469705
1000 genomesrs199469705
hgdprs199469705
ensemblrs199469705
gopubmedrs199469705
geneviewrs199469705
scholarrs199469705
googlers199469705
pharmgkbrs199469705
gwascentralrs199469705
openSNPrs199469705
23andMers199469705
23andMe allrs199469705
SNP Nexus

SNPshotrs199469705
SNPdbers199469705
MSV3drs199469705
GWAS Ctlgrs199469705
Max Magnitude0
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
CLNACC RCV000023795.3,


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