Original source

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

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

Chromosome 4:6301891 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013442

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

4:g.6301891C>T
ENST00000507765.1:n.2281C>T
ENST00000503569.5:c.2096C>T
ENSP00000423337.1:p.Thr699Met
ENST00000226760.5:c.2096C>T
ENSP00000226760.1:p.Thr699Met

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays