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 16:89553932 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073369

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11461

This variant has 10 HGVS names - click the plus to show

16:g.89553932G>C
ENST00000268704.6:c.2075G>C
ENSP00000268704.2:p.Ser692Thr
ENST00000566682.1:c.211G>C
ENSP00000461979.1:p.Ser71Thr
ENST00000620811.4:c.*121G>C
ENST00000569720.1:n.266G>C
ENST00000561702.5:n.1060G>C
ENST00000561911.5:c.*42G>C
ENST00000569820.5:c.*1105G>C

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays