KIF1C |
- 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(Read more about gnomAD pLI score)
- LOEUF
- 0.61(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
ClinGen Curation ID:
CCID:007367
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:
- spastic ataxia 2 Monarch
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)