Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 13:102872397 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940377

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 1778

HGVS names

This variant has 24 HGVS names - Hide

Variant allele A
13:g.102872397G>A
ENST00000602836.1:c.4154G>A
ENST00000602836.1:c.4154G>A(p.=)
ENST00000355739.8:c.2878G>A
ENSP00000347978.4:p.Glu960Lys
ENST00000610537.4:c.2875G>A
ENSP00000478667.1:p.Glu959Lys
ENST00000375954.1:c.577G>A
ENSP00000365121.1:p.Glu193Lys
LRG_464:g.31574G>A
LRG_464t1:c.2878G>A
LRG_464p1:p.Glu960Lys

Variant allele T
13:g.102872397G>T
ENST00000602836.1:c.4154G>T
ENST00000602836.1:c.4154G>T(p.=)
ENST00000355739.8:c.2878G>T
ENSP00000347978.4:p.Glu960Ter
ENST00000610537.4:c.2875G>T
ENSP00000478667.1:p.Glu959Ter
ENST00000375954.1:c.577G>T
ENSP00000365121.1:p.Glu193Ter
LRG_464:g.31574G>T
LRG_464t1:c.2878G>T
LRG_464p1:p.Glu960Ter

About this variant

This variant overlaps 14 transcripts and is associated with 2 phenotypes.

Variant displays