Original source

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

Alleles
-/A
Location

Chromosome 5: between 132390839 and 132390840 (forward strand) | View in location tab

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB SCV000111943, 11838

This variant has 10 HGVS names - click the plus to show

5:g.132390839dupA
ENST00000245407.7:c.1202dupA
ENSP00000245407.3:p.Tyr401Ter
ENST00000435065.6:c.1274dupA
ENSP00000402760.2:p.Tyr425Ter
ENST00000475308.1:n.1880dupA
ENST00000461013.5:n.8624dupA
ENST00000447841.5:c.*-1594dupA
ENST00000479605.5:n.305dupA
ENST00000448810.5:c.*54dupA

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays