Original source

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

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

Chromosome 10:93777592 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073177

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12772

This variant has 15 HGVS names - click the plus to show

10:g.93777592C>T
ENST00000627075.1:n.75-567G>A
ENST00000630047.2:c.288-12507C>T
ENST00000627420.2:c.*78-12507C>T
ENST00000485458.2:n.321C>T
ENST00000629035.2:c.334C>T
ENSP00000486908.1:p.Arg112Trp
ENST00000630487.2:c.*196C>T
ENST00000371413.4:c.406C>T
ENSP00000360467.3:p.Arg136Trp
ENST00000464250.1:n.36C>T
ENST00000371418.8:c.406C>T
ENSP00000360472.4:p.Arg136Trp
ENST00000630184.2:c.406C>T
ENSP00000486607.1:p.Arg136Trp

About this variant

This variant overlaps 10 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays