HFM1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- HFM1 (HGNC:20193) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- helicase for meiosis 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SEC63D1
- Alias symbols
- MER3, FLJ39011, FLJ36760
- %HI
- 42.61(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.93(Read more about gnomAD LOEUF score)
- Cytoband
- 1p22.2
- Genomic Coordinates
-
GRCh37/hg19: chr1:91726323-91870394 NCBI Ensembl UCSC GRCh38/hg38: chr1:91260766-91408007 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001017975.6 ENST00000370425.8 (Read more about MANE Select)
- Function
- Required for crossover formation and complete synapsis of homologous chromosomes during meiosis. {ECO:0000250|UniProtKB:D3Z4R1}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-35958
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:
- premature ovarian failure 9 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)