Original source

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

C/G | Ancestral: C | Ambiguity code: S

Chromosome 1:42830860 (forward strand) | View in location tab


with HGMD-PUBLIC CM033613 ; PhenCode BGMUT_756 (C/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays