Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 17:72919056 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050767

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15168, 2010_April_001_238_USH1G_607696_0005

This variation has 5 HGVS names - click the plus to show

17:g.72919056C>T
ENST00000579243.1:c.113G>A
ENSP00000462568.1:p.Trp38Ter
ENST00000319642.1:c.113G>A
ENSP00000320076.1:p.Trp38Ter

Variation displays