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COL4A4 |
Gene Facts External Data Attribution
- HGNC Symbol
- COL4A4 (HGNC:2206) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- collagen type IV alpha 4 chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CA44
- %HI
- 51.24(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.61(Read more about gnomAD LOEUF score)
- Cytoband
- 2q36.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:227867430-228028921 NCBI Ensembl UCSC GRCh38/hg38: chr2:226967360-227164488 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000092.5 ENST00000396625.5 (Read more about MANE Select)
- Function
- Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-17567
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary 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)
