DisGeNET - a database of gene-disease associations

Coffin-Lowry syndrome, C0265252

Variant: rs869320705 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869320705

rs869320705

RPS6KA3

0.710

GeneticVariation

BEFREE

We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes.

2005

dbSNP:

rs869320705

rs869320705

RPS6KA3

A

0.710

CausalMutation

CLINVAR