Disease: HSAN Type IV ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759637817
rs759637817
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease:
HSAN Type IV 		T 0.710 GeneticVariation CLINVAR Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. 28192073 2017
dbSNP: rs759637817
rs759637817
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease:
HSAN Type IV 		T 0.710 GeneticVariation CLINVAR Here we report four homozygous mutations, two frameshift (p.Gln626fsX6 and p.Gly181fsX58), one missense (p.Arg761Trp) and one splice site (c.359+5G>T) mutation in four HSAN IV patients. 16373086 2006
dbSNP: rs759637817
rs759637817
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease:
HSAN Type IV 		0.710 GeneticVariation BEFREE Here we report four homozygous mutations, two frameshift (p.Gln626fsX6 and p.Gly181fsX58), one missense (p.Arg761Trp) and one splice site (c.359+5G>T) mutation in four HSAN IV patients. 16373086 2006
dbSNP: rs759637817
rs759637817
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease:
HSAN Type IV 		T 0.710 GeneticVariation CLINVAR Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. 11668614 2001