Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 5:78181545 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM067639 ; PhenCode AP3B1base_D0103:g.114127A>T (T/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11883

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
5:g.78181545T>A
ENST00000255194.10:c.904A>T
ENSP00000255194.6:p.Arg302Ter
ENST00000519295.5:c.757A>T
ENSP00000430597.1:p.Arg253Ter
LRG_170:g.118160A>T
LRG_170t1:c.904A>T
LRG_170p1:p.Arg302Ter

Variant allele C
5:g.78181545T>C
ENST00000255194.10:c.904A>G
ENSP00000255194.6:p.Arg302Gly
ENST00000519295.5:c.757A>G
ENSP00000430597.1:p.Arg253Gly
LRG_170:g.118160A>G
LRG_170t1:c.904A>G
LRG_170p1:p.Arg302Gly

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays