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STON1-GTF2A1L |
Gene Facts External Data Attribution
- HGNC Symbol
- STON1-GTF2A1L (HGNC:30651) HGNC Entrez Ensembl UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- STON1-GTF2A1L readthrough
- Gene type
- other
- Locus type
- readthrough
- Previous symbols
- No previous names found
- Alias symbols
- SALF
- %HI
- 57.3(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.3(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:48757064-49003658 NCBI Ensembl UCSC GRCh38/hg38: chr2:48529925-48776519 NCBI Ensembl UCSC
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9762
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
