Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 4:1002333 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000404

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6461

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

4:g.1002333T>G
ENST00000514224.1:c.641T>G
ENSP00000425081.1:p.Leu214Arg
ENST00000514698.5:n.1144T>G
ENST00000247933.8:c.1037T>G
ENSP00000247933.4:p.Leu346Arg

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays