Original source

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

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

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

Co-located

with HGMD-PUBLIC CM085982

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10826

This variant has 8 HGVS names - click the plus to show

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