Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

with HGMD-PUBLIC CM060475

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 3 HGVS names - click the plus to show

3:g.164983015A>C
ENST00000264382.6:c.5234T>G
ENSP00000264382.3:p.Phe1745Cys

Genotyping chips

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

About this variant

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

Variation displays