Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: < 0.01 (A)
Location

Chromosome 19:40397250 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM011005

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13367, 2010_April_001_088_PRX_605725_0003

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
19:g.40397250G>A
ENST00000291825.11:c.*1307C>T
ENST00000324001.7:c.1102C>T
ENSP00000326018.6:p.Arg368Ter
LRG_265:g.21115C>T
LRG_265t2:c.1102C>T
LRG_265p2:p.Arg368Ter
LRG_265t1:c.*1307C>T

Variant allele C
19:g.40397250G>C
ENST00000291825.11:c.*1307C>G
ENST00000324001.7:c.1102C>G
ENSP00000326018.6:p.Arg368Gly
LRG_265:g.21115C>G
LRG_265t2:c.1102C>G
LRG_265p2:p.Arg368Gly
LRG_265t1:c.*1307C>G

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays