Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K | MAF: < 0.01 (T)
Location

Chromosome 8:96144951 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM0910799

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9958

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

8:g.96144951G>T
ENST00000287020.6:c.980C>A
ENSP00000287020.4:p.Pro327His
ENST00000620978.1:c.793+125C>A
ENST00000621429.1:c.874+106C>A

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays