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: 15-26793024-A-G Allele Count: 1   Sample Count: 335   MAF: 0.0015   CADD Score: 5.372

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
GABRB3 ENST00000311550 aaT/aaC N446 CCDS10019.1 synonymous - -
GABRB3 ENST00000299267 aaT/aaC N446 CCDS10018.1 synonymous - -
GABRB3 ENST00000400188 aaT/aaC N375 CCDS53921.1 synonymous - -
GABRB3 ENST00000541819 aaT/aaC N502 - synonymous - -
GABRB3 ENST00000545868 aaT/aaC N361 CCDS53920.1 synonymous - -
GABRB3 ENST00000555632 - - - 3' UTR - -