Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 10:74082499 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM062022

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 27237

HGVS names

This variant has 11 HGVS names - Hide

10:g.74082499C>A
ENST00000478896.2:n.332-18555C>A
ENST00000211998.8:c.829C>A
ENSP00000211998.4:p.Leu277Met
ENST00000623461.3:n.3632C>A
ENST00000372755.7:c.829C>A
ENSP00000361841.3:p.Leu277Met
ENST00000624354.3:c.*584C>A
LRG_383:g.89386C>A
LRG_383t1:c.829C>A
LRG_383p1:p.Leu277Met

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays