Data Browser v1

Examples - Gene: DNM1, Region: 15:26792932-26818879, Variant: 9-140043500-G-A


Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 15-26806254-T-C Allele Count: 1   Sample Count: 335   MAF: 0.0015   CADD Score: 21.5

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
GABRB3 ENST00000311550 tAt/tGt Y302C CCDS10019.1 missense probably_damaging(0.938) tolerated(0.13)
GABRB3 ENST00000299267 tAt/tGt Y302C CCDS10018.1 missense probably_damaging(0.912) tolerated(0.05)
GABRB3 ENST00000400188 tAt/tGt Y231C CCDS53921.1 missense possibly_damaging(0.757) deleterious(0.03)
GABRB3 ENST00000541819 tAt/tGt Y358C - missense possibly_damaging(0.835) tolerated(0.1)
GABRB3 ENST00000545868 tAt/tGt Y217C CCDS53920.1 missense probably_damaging(0.938) tolerated(0.07)
GABRB3 ENST00000554556 - - - 3' UTR - -
GABRB3 ENST00000555632 - - - 3' UTR - -
GABRB3 ENST00000557765 - - - downstream - -