C19orf12
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
C19orf12 (HGNC:25443) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
chromosome 19 open reading frame 12
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SPG43
Alias symbols
MGC10922, DKFZP762D096, NBIA4, MPAN
%HI
77.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.91(Read more about gnomAD pLI score)
LOEUF
0.57(Read more about gnomAD LOEUF score)
Cytoband
19q12
Genomic Coordinates
GRCh37/hg19: chr19:30189793-30206696 NCBI Ensembl UCSC
GRCh38/hg38: chr19:29698886-29715789 NCBI Ensembl UCSC
MANE Select Transcript
NM_031448.6 ENST00000323670.14 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12022
ClinGen Curation ID:
CCID:006769
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
  • neurodegeneration with brain iron accumulation 4 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)