Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M|MAF: 0.01 (C)
Location

Chromosome 4:88067937 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM098191

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_058829

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts and has 2506 sample genotypes.

Variant displays