Original source

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

Alleles
-/GGCCCAGTCCCGG
Location

Chromosome 19: between 1399810 and 1399811 (forward strand) | View in location tab

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000156.4:c.297_309dup13

This variant has 5 HGVS names - click the plus to show

19:g.1399810_1399811insGGCCCAGTCCCGG
ENST00000447102.7:c.299_311dupGGGACTGGGCCCC
ENSP00000403536.2:p.Arg105GlyfsTer26
ENST00000252288.6:c.299_311dupGGGACTGGGCCCC
ENSP00000252288.1:p.Arg105GlyfsTer26

About this variant

This variant overlaps 19 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays