Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 4:6302281 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM013445

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13636, 2010_April_001_091_WFS1_606201_0015

HGVS names

This variant has 6 HGVS names - Hide

4:g.6302281T>C
ENST00000507765.1:n.2671T>C
ENST00000503569.5:c.2486T>C
ENSP00000423337.1:p.Leu829Pro
ENST00000226760.5:c.2486T>C
ENSP00000226760.1:p.Leu829Pro

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays