Original source

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

Alleles
-/G
Location

Chromosome 7: between 100641173 and 100641174 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_003227.3:c.88_89insC

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

7:g.100641173_100641174insG
ENST00000474947.1:n.246dupC
ENST00000465294.4:n.93dupC
ENST00000462107.1:c.88dupC
ENSP00000420525.1:p.Arg30ProfsTer31
ENST00000223051.6:c.88dupC
ENSP00000223051.3:p.Arg30ProfsTer31
ENST00000431692.4:c.88dupC
ENSP00000413905.1:p.Arg30ProfsTer31

About this variant

This variant overlaps 8 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Variation displays