Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 2:240875125 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970065

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12570, NM_000030.2:c.697C>T

HGVS names

This variant has 4 HGVS names - Hide

2:g.240875125C>T
ENST00000476698.1:n.349C>T
ENST00000307503.3:c.697C>T
ENSP00000302620.3:p.Arg233Cys

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays