This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
G/A/C/T|Ancestral: G|Ambiguity code: N
Location

Chromosome 1:154571682 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM002752, CM010187

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

Variant allele A
1:g.154571682G>A
ENST00000368476.3:c.859G>A
ENSP00000357461.3:p.Val287Met

Variant allele T
1:g.154571682G>T
ENST00000368476.3:c.859G>T
ENSP00000357461.3:p.Val287Leu

Variant allele C
1:g.154571682G>C
ENST00000368476.3:c.859G>C
ENSP00000357461.3:p.Val287Leu

About this variant

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

Variant displays