Original source

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

Alleles
-/T
Location

Chromosome 2: between 96265232 and 96265233 (forward strand) | View in location tab

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB NM_017849.3:c.149_150insA

This variant has 8 HGVS names - click the plus to show

2:g.96265232_96265233insT
ENST00000258439.7:c.149dupA
ENSP00000258439.2:p.Pro51AlafsTer57
ENST00000432959.1:c.149dupA
ENSP00000416660.1:p.Pro51AlafsTer57
LRG_528:g.5781dupA
LRG_528t1:c.149dupA
LRG_528p1:p.Pro51AlafsTer57

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays