Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/T|Ancestral: G|Ambiguity code: K|MAF: < 0.01 (T)
Location

Chromosome 1:156879336 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM000189 ; PhenCode KinMutBase_NTRK1_DNA:g.19402G>T (G/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB HSAN4_7

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 11 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays