Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM981424

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10155

This variant has 11 HGVS names - click the plus to show

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

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays