Original source

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

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

Chromosome 6:52424111 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM042020

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays