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: 9-140043500-G-A Allele Count: 1   Sample Count: 335   MAF: 0.0015   CADD Score: 11.71

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
GRIN1 ENST00000371553 Gtg/Atg V225M CCDS55354.1 missense benign(0.388) tolerated(0.18)
GRIN1 ENST00000315048 Gtg/Atg V204M - missense benign(0.428) tolerated(0.21)
GRIN1 ENST00000371561 Gtg/Atg V204M CCDS7031.1 missense possibly_damaging(0.683) tolerated(0.22)
GRIN1 ENST00000371560 Gtg/Atg V225M CCDS55355.1 missense benign(0.388) tolerated(0.19)
GRIN1 ENST00000371559 Gtg/Atg V204M CCDS43910.1 missense benign(0.428) tolerated(0.15)
GRIN1 ENST00000371555 Gtg/Atg V225M - missense benign(0.37) tolerated(0.06)
GRIN1 ENST00000371550 Gtg/Atg V204M CCDS7032.1 missense benign(0.079) tolerated(0.14)
GRIN1 ENST00000371546 Gtg/Atg V225M - missense benign(0.38) tolerated(0.18)
GRIN1 ENST00000350902 Gtg/Atg V204M - missense possibly_damaging(0.768) tolerated(0.07)
GRIN1 ENST00000471122 - - - noncoding exon - -