Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 4:6301696 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM023690

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_094_WFS1_606201_0018, 13639

HGVS names

This variant has 12 HGVS names - Hide

Variant allele C
4:g.6301696A>C
ENST00000507765.1:n.2086A>C
ENST00000503569.5:c.1901A>C
ENSP00000423337.1:p.Lys634Thr
ENST00000226760.5:c.1901A>C
ENSP00000226760.1:p.Lys634Thr

Variant allele G
4:g.6301696A>G
ENST00000507765.1:n.2086A>G
ENST00000503569.5:c.1901A>G
ENSP00000423337.1:p.Lys634Arg
ENST00000226760.5:c.1901A>G
ENSP00000226760.1:p.Lys634Arg

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays