Original source

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

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

Chromosome 4:6301966 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM982043

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

4:g.6301966C>T
ENST00000507765.1:n.2356C>T
ENST00000503569.5:c.2171C>T
ENSP00000423337.1:p.Pro724Leu
ENST00000226760.5:c.2171C>T
ENSP00000226760.1:p.Pro724Leu

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays