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 19:40397766 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM010393 ; PhenCode IPNMDB_515 (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13369, 2010_April_001_089_PRX_605725_0005

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
19:g.40397766G>A
ENST00000324001.7:c.586C>T
ENSP00000326018.6:p.Arg196Ter
ENST00000291825.11:c.*791C>T
LRG_265:g.20599C>T
LRG_265t2:c.586C>T
LRG_265p2:p.Arg196Ter
LRG_265t1:c.*791C>T

Variant allele T
19:g.40397766G>T
ENST00000324001.7:c.586C>A
ENST00000324001.7:c.586C>A(p.=)
ENST00000291825.11:c.*791C>A
LRG_265:g.20599C>A
LRG_265t2:c.586C>A
LRG_265t2:c.586C>A(p.=)
LRG_265t1:c.*791C>A

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays