Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 1:183563507 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_065017

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 9 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays