Data Browser v1

Examples - Gene: DNM1, Region: 15:26792932-26818879, Variant: 9-140509398-A-G


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

Variant: 15-26806154-G-A Allele Count: 1   Sample Count: 169   MAF: 0.003   CADD Score: 11.41

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
GABRB3 ENST00000311550 ggC/ggT - CCDS10019.1 synonymous - -
GABRB3 ENST00000299267 ggC/ggT - CCDS10018.1 synonymous - -
GABRB3 ENST00000400188 ggC/ggT - CCDS53921.1 synonymous - -
GABRB3 ENST00000541819 ggC/ggT - - synonymous - -
GABRB3 ENST00000545868 ggC/ggT - CCDS53920.1 synonymous - -
GABRB3 ENST00000555632 - - - 3' UTR - -
GABRB3 ENST00000554556 - - - downstream - -
GABRB3 ENST00000557765 - - - downstream - -