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: 15-26806154-G-A Allele Count: 4   Sample Count: 335   MAF: 0.006   CADD Score: 9.997

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
GABRB3 ENST00000311550 ggC/ggT G335 CCDS10019.1 synonymous - -
GABRB3 ENST00000299267 ggC/ggT G335 CCDS10018.1 synonymous - -
GABRB3 ENST00000400188 ggC/ggT G264 CCDS53921.1 synonymous - -
GABRB3 ENST00000541819 ggC/ggT G391 - synonymous - -
GABRB3 ENST00000545868 ggC/ggT G250 CCDS53920.1 synonymous - -
GABRB3 ENST00000555632 - - - 3' UTR - -
GABRB3 ENST00000554556 - - - downstream - -
GABRB3 ENST00000557765 - - - downstream - -