Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: < 0.01 (G)
Location

Chromosome 3:165830030 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM062445

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5077, 2010_April_001_019_BCHE_177400_0014

This variant has 9 HGVS names - click the plus to show

3:g.165830030A>G
ENST00000482958.1:c.1004T>C
ENSP00000419804.1:p.Leu335Pro
ENST00000264381.7:c.1004T>C
ENSP00000264381.3:p.Leu335Pro
ENST00000479451.5:c.107+7284T>C
ENST00000488954.1:c.107+7284T>C
ENST00000497011.5:c.1004T>C
ENSP00000419505.1:p.Leu335Pro

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays