Original source

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

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

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

Co-located

with HGMD-PUBLIC CM961062

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10154

This variation has 6 HGVS names - click the plus to show

5:g.41805674G>C
ENST00000196371.8: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.

Variation displays