• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KIF1C (HGNC:6317) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
kinesin family member 1C
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SAX2
Alias symbols
SPAX2, SPG58
%HI
44.84(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.72(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
17p13.2
Genomic Coordinates
GRCh37/hg19: chr17:4901245-4931696 NCBI Ensembl UCSC
GRCh38/hg38: chr17:4997950-5028401 NCBI Ensembl UCSC
MANE Select Transcript
NM_006612.6 ENST00000320785.10 (Read more about MANE Select)
Function
Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility. {ECO:0000269|PubMed:9685376}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30779
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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 Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)