Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 7:107915506 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990485

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6384

This variant has 11 HGVS names - click the plus to show

7:g.107915506G>T
ENST00000205402.9:c.685G>T
ENSP00000205402.3:p.Gly229Cys
ENST00000417551.5:c.685G>T
ENSP00000390667.1:p.Gly229Cys
ENST00000437604.6:c.541G>T
ENSP00000387542.2:p.Gly181Cys
ENST00000440410.5:c.616G>T
ENSP00000417016.1:p.Gly206Cys
ENST00000451081.5:c.*428G>T
ENST00000415325.5:c.*359G>T

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

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

Variant displays