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 (C)
Location

Chromosome 4:6301739 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM982041

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13626, 2010_April_001_086_WFS1_606201_0005

HGVS names

This variant has 12 HGVS names - Hide

Variant allele A
4:g.6301739G>A
ENST00000507765.1:n.2129G>A
ENST00000503569.5:c.1944G>A
ENSP00000423337.1:p.Trp648Ter
ENST00000226760.5:c.1944G>A
ENSP00000226760.1:p.Trp648Ter

Variant allele C
4:g.6301739G>C
ENST00000507765.1:n.2129G>C
ENST00000503569.5:c.1944G>C
ENSP00000423337.1:p.Trp648Cys
ENST00000226760.5:c.1944G>C
ENSP00000226760.1:p.Trp648Cys

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays