Disease: Indifference to Pain, Congenital, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1024152367
rs1024152367
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1855739
Disease:
Indifference to Pain, Congenital, Autosomal Recessive 		0.710 GeneticVariation BEFREE Here, we describe the identification and functional characterization of two novel non-truncating mutations in families with CIP: a homozygously-inherited missense mutation found in a consanguineous Israeli Bedouin family (Na(v)1.7-R896Q) and a five amino acid in-frame deletion found in a sporadic compound heterozygote (Na(v)1.7-DeltaR1370-L1374). 20635406 2010
dbSNP: rs1024152367
rs1024152367
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1855739
Disease:
Indifference to Pain, Congenital, Autosomal Recessive 		0.710 GeneticVariation UNIPROT