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C1GALT1C1L |
Gene Facts External Data Attribution
- HGNC Symbol
- C1GALT1C1L (HGNC:51617) HGNC Entrez Ensembl GeneReviews LOVD LSDB ClinVar
- HGNC Name
- C1GALT1 specific chaperone 1 like
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 0(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.1(Read more about gnomAD pLI score)
- LOEUF
- 1.85(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:43902290-43903568 NCBI Ensembl UCSC GRCh38/hg38: chr2:43675151-43676429 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001101330.3 ENST00000475092.4 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-3019
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)
