MLC1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MLC1 (HGNC:17082) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- modulator of VRAC current 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MLC, KIAA0027, LVM, VL
- %HI
- 68.71(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.16(Read more about gnomAD LOEUF score)
- Cytoband
- 22q13.33
- Genomic Coordinates
-
GRCh37/hg19: chr22:50497820-50524304 NCBI Ensembl UCSC GRCh38/hg38: chr22:50059391-50085875 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015166.4 ENST00000311597.10 (Read more about MANE Select)
- Function
- Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO:0000269|PubMed:22328087}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23102
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- megalencephalic leukoencephalopathy with subcortical cysts 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)