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 7:76303007 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM085982

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10826

HGVS names

This variant has 8 HGVS names - Hide

7:g.76303007C>A
ENST00000248553.6:c.295C>A
ENSP00000248553.6:p.Leu99Met
ENST00000447574.1:c.295C>A
ENSP00000414357.1:p.Leu99Met
LRG_248:g.5450C>A
LRG_248t1:c.295C>A
LRG_248p1:p.Leu99Met

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays