Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 17:74922931 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031391

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_237_USH1G_607696_0001, 15164

HGVS names

This variant has 5 HGVS names - Hide

17:g.74922931A>G
ENST00000579243.1:c.143T>C
ENSP00000462568.1:p.Leu48Pro
ENST00000614341.4:c.143T>C
ENSP00000480279.1:p.Leu48Pro

About this variant

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

Variant displays