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 1:16024773 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM045636

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10725

This variant has 8 HGVS names - click the plus to show

1:g.16024773G>C
ENST00000464764.5:n.889-86G>C
ENST00000331433.4:c.240G>C
ENSP00000332771.4:p.Trp80Cys
ENST00000439316.6:c.229+845G>C
ENST00000375692.5:c.240G>C
ENSP00000364844.1:p.Trp80Cys
ENST00000495784.1:n.398G>C

About this variant

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

Variant displays