Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/A | Ancestral: T | Ambiguity code: W | MAF: < 0.01 (A)
Location

Chromosome 7:30971183 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010307

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

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

7:g.30971183T>A
ENST00000489974.5:n.204T>A
ENST00000409904.7:c.239T>A
ENSP00000387113.3:p.Leu80His
ENST00000337750.9:c.174+1219T>A
ENST00000409316.5:c.-117T>A
ENST00000396227.6:c.239T>A
ENSP00000379529.2:p.Leu80His
ENST00000326139.6:c.431T>A
ENSP00000320180.2:p.Leu144His

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays