LINS1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- LINS1 (HGNC:30922) HGNC Entrez Ensembl OMIM GeneReviews LOVD LSDB ClinVar
- HGNC Name
- lines homolog 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- LINS, MRT27
- Alias symbols
- WINS1
- %HI
- 71.81(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.87(Read more about gnomAD LOEUF score)
- Cytoband
- 15q26.3
- Genomic Coordinates
-
GRCh37/hg19: chr15:101107129-101142389 NCBI Ensembl UCSC GRCh38/hg38: chr15:100566924-100602184 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001040616.3 ENST00000314742.13 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4606
ClinGen Curation ID:
CCID:007404
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:
- intellectual disability, autosomal recessive 27 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)