Original source

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

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

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

Co-located variants

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

Synonyms

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