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 5:78116228 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020265

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11885, NM_003664.3:c.1975G>T

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

5:g.78116228C>A
ENST00000255194.10:c.1975G>T
ENSP00000255194.6:p.Glu659Ter
ENST00000519295.5:c.1828G>T
ENSP00000430597.1:p.Glu610Ter
LRG_170:g.183477G>T
LRG_170t1:c.1975G>T
LRG_170p1:p.Glu659Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays