Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 19:40396207 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM021124 ; PhenCode IPNMDB_570 (A/T)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13370, 2010_April_001_090_PRX_605725_0006, NM_181882.2:c.2145T>A

HGVS names

This variant has 8 HGVS names - Hide

19:g.40396207A>T
ENST00000324001.7:c.2145T>A
ENSP00000326018.6:p.Cys715Ter
ENST00000291825.11:c.*2350T>A
LRG_265:g.22158T>A
LRG_265t2:c.2145T>A
LRG_265p2:p.Cys715Ter
LRG_265t1:c.*2350T>A

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays