RAB28
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RAB28 (HGNC:9768) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
RAB28, member RAS oncogene family
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
12.5(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.33(Read more about gnomAD LOEUF score)
Cytoband
4p15.33
Genomic Coordinates
GRCh37/hg19: chr4:13369348-13485964 NCBI Ensembl UCSC
GRCh38/hg38: chr4:13367724-13484340 NCBI Ensembl UCSC
MANE Select Transcript
NM_001017979.3 ENST00000330852.10 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_004249.4 ENST00000288723.9 (Read more about MANE Plus Clinical)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24275
ClinGen Curation ID:
CCID:007739
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)