Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: 0.01 (C)
Location

Chromosome 3:165830741 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890021

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

3:g.165830741T>C
ENST00000482958.1:c.293A>G
ENSP00000419804.1:p.Asp98Gly
ENST00000264381.7:c.293A>G
ENSP00000264381.3:p.Asp98Gly
ENST00000479451.5:c.107+6573A>G
ENST00000488954.1:c.107+6573A>G
ENST00000497011.5:c.293A>G
ENSP00000419505.1:p.Asp98Gly

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2566 sample genotypes, is associated with 4 phenotypes and is mentioned in 4 citations.

Variant displays