• 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)