Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M|MAF: 0.05 (C)
Location

Chromosome X:19357664 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4989213 ; HGMD-PUBLIC CM119793, CM950922

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 13 HGVS names - Hide

X:g.19357664A>C
ENST00000540249.5:c.751A>C
ENSP00000440761.1:p.Met251Leu
ENST00000422285.6:c.844A>C
ENSP00000394382.2:p.Met282Leu
ENST00000379806.9:c.958A>C
ENSP00000369134.5:p.Met320Leu
ENST00000481733.1:n.272A>C
ENST00000379804.1:c.1A>C
ENSP00000369132.1:p.Met1?
ENST00000545074.5:c.865A>C
ENSP00000438550.1:p.Met289Leu
ENST00000478795.1:n.283A>C

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 15 transcripts, has 3111 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays