Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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 IPNMDB_447 (G/C), KinMutBase_NTRK1_DNA:g.21656G>C (G/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 38 HGVS names - click the plus to show

Genotyping chips

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

About this variant

This variant overlaps 20 transcripts, has 1094 individual genotypes and is associated with 3 phenotypes.

Variation displays