Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.02 (T)

Chromosome 1:156879126 (forward strand) | View in location tab


with HGMD-PUBLIC CM990977 ; PhenCode KinMutBase_NTRK1_DNA:g.19192C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 18 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni2.5

About this variant

This variant overlaps 11 transcripts, has 1458 individual genotypes, is associated with 5 phenotypes and is mentioned in 9 citations.

Variation displays