Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: < 0.01 (A)

Chromosome 1:156881590 (forward strand) | View in location tab


with HGMD-PUBLIC CM990981 ; PhenCode KinMutBase_NTRK1_DNA:g.21656G>C (G/C), IPNMDB_447 (G/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 38 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 20 transcripts, has 2506 sample genotypes and is associated with 3 phenotypes.

Variant displays