Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 5:41805674 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM961062

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10154

HGVS names

This variant has 6 HGVS names - Hide

5:g.41805674G>C
ENST00000196371.9:c.848C>G
ENSP00000196371.5:p.Ser283Ter
ENST00000509987.1:c.290C>G
ENSP00000425348.1:p.Ser97Ter
ENST00000514723.1:n.144+34777C>G

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays