Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 10:93758280 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022035

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12766, 2010_April_001_047_LGI1_604619_0004

This variation has 19 HGVS names - click the plus to show

10:g.93758280T>C
ENST00000630047.1:c.136T>C
ENSP00000485917.1:p.Cys46Arg
ENST00000627420.1:c.136T>C
ENSP00000487116.1:p.Cys46Arg
ENST00000629035.1:c.136T>C
ENSP00000486908.1:p.Cys46Arg
ENST00000371413.4:c.136T>C
ENSP00000360467.3:p.Cys46Arg
ENST00000630487.1:c.136T>C
ENSP00000486859.1:p.Cys46Arg
ENST00000478763.2:c.136T>C
ENSP00000486517.1:p.Cys46Arg
ENST00000371418.7:c.136T>C
ENSP00000360472.4:p.Cys46Arg
ENST00000627699.1:c.136T>C
ENSP00000485868.1:p.Cys46Arg
ENST00000630184.1:c.136T>C
ENSP00000486607.1:p.Cys46Arg

About this variant

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

Variation displays