Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 5:41749579 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981424

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10155

HGVS names

This variant has 11 HGVS names - Hide

5:g.41749579C>A
ENST00000196371.9:c.1367G>T
ENSP00000196371.5:p.Cys456Phe
ENST00000508557.5:n.252G>T
ENST00000509987.1:c.809G>T
ENSP00000425348.1:p.Cys270Phe
ENST00000513081.5:n.298G>T
ENST00000512084.5:c.176G>T
ENSP00000421143.1:p.Cys59Phe
ENST00000510634.5:c.176G>T
ENSP00000423144.1:p.Cys59Phe

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays