Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 7:100633100 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM000834

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12811, NM_003227.3:c.750C>G

This variant has 14 HGVS names - click the plus to show

7:g.100633100G>C
ENST00000475011.1:n.279C>G
ENST00000465294.5:n.755C>G
ENST00000473374.5:n.200C>G
ENST00000490084.5:c.5C>G
ENSP00000418942.1:p.Tyr2Ter
ENST00000431692.5:c.750C>G
ENSP00000413905.1:p.Tyr250Ter
ENST00000473571.1:n.204C>G
ENST00000476304.5:n.371C>G
ENST00000462107.1:c.750C>G
ENSP00000420525.1:p.Tyr250Ter
ENST00000223051.7:c.750C>G
ENSP00000223051.3:p.Tyr250Ter

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays