Original source

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

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

Chromosome 4:1002747 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920372

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6442

This variant has 7 HGVS names - click the plus to show

4:g.1002747G>A
ENST00000514224.1:c.809G>A
ENSP00000425081.1:p.Trp270Ter
ENST00000514698.5:n.1312G>A
ENST00000247933.8:c.1205G>A
ENSP00000247933.4:p.Trp402Ter
ENST00000502829.1:n.7G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 11 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays