Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 17:74922961 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM050767

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15168, 2010_April_001_238_USH1G_607696_0005

HGVS names

This variant has 5 HGVS names - Hide

17:g.74922961C>T
ENST00000579243.1:c.113G>A
ENSP00000462568.1:p.Trp38Ter
ENST00000614341.4:c.113G>A
ENSP00000480279.1:p.Trp38Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays