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 3:164983015 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM060475

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

3:g.164983015A>C
ENST00000264382.7:c.5234T>G
ENSP00000264382.3:p.Phe1745Cys

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 1 transcript, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays