Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 19:45766866 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM071087

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_175875.3:c.1093G>A, 2010_April_001_101_SIX5_600963_0003, 9736

HGVS names

This variant has 7 HGVS names - Hide

19:g.45766866C>T
ENST00000622857.1:c.16-904G>A
ENST00000559756.1:n.1180+902C>T
ENST00000560160.1:c.587-755G>A
ENST00000560168.1:c.*281G>A
ENST00000317578.6:c.1093G>A
ENSP00000316842.4:p.Gly365Arg

About this variant

This variant overlaps 24 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays