Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 7:107917307 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014351

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6388

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

7:g.107917307A>G
ENST00000205402.8:c.1081A>G
ENSP00000205402.3:p.Met361Val
ENST00000417551.4:c.1081A>G
ENSP00000390667.1:p.Met361Val
ENST00000440410.4:c.1012A>G
ENSP00000417016.1:p.Met338Val
ENST00000437604.5:c.937A>G
ENSP00000387542.2:p.Met313Val
ENST00000415325.4:c.*755A>G

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variation displays