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 5:60944972 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043838

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16309

This variant has 11 HGVS names - click the plus to show

5:g.60944972C>A
ENST00000265038.9:c.37G>T
ENSP00000265038.5:p.Glu13Ter
ENST00000439176.5:c.-180G>T
ENST00000497892.5:n.80G>T
ENST00000477893.1:n.88G>T
ENST00000381118.7:c.37G>T
ENSP00000370510.3:p.Glu13Ter
LRG_466:g.5107G>T
LRG_466t1:c.37G>T
LRG_466p1:p.Glu13Ter

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays