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 4:6301879 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM982042

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

Variant allele A
4:g.6301879G>A
ENST00000507765.1:n.2269G>A
ENST00000503569.5:c.2084G>A
ENSP00000423337.1:p.Gly695Asp
ENST00000226760.5:c.2084G>A
ENSP00000226760.1:p.Gly695Asp

Variant allele T
4:g.6301879G>T
ENST00000507765.1:n.2269G>T
ENST00000503569.5:c.2084G>T
ENSP00000423337.1:p.Gly695Val
ENST00000226760.5:c.2084G>T
ENSP00000226760.1:p.Gly695Val

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variant displays