Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 10:93797082 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031236

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

10:g.93797082T>G
ENST00000630047.2:c.809T>G
ENSP00000485917.1:p.Phe270Cys
ENST00000627420.2:c.*662T>G
ENST00000626307.1:n.4868T>G
ENST00000629035.2:c.881T>G
ENSP00000486908.1:p.Phe294Cys
ENST00000371413.4:c.839-667T>G
ENST00000371418.8:c.953T>G
ENSP00000360472.4:p.Phe318Cys

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays