Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 10:93797082 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031236

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

10:g.93797082T>G
ENST00000630047.1:c.809T>G
ENSP00000485917.1:p.Phe270Cys
ENST00000627420.1:c.*662T>G
ENST00000626307.1:n.4868T>G
ENST00000629035.1:c.881T>G
ENSP00000486908.1:p.Phe294Cys
ENST00000371413.4:c.839-667T>G
ENST00000371418.7:c.953T>G
ENSP00000360472.4:p.Phe318Cys

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variation displays