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TMEM247 |
Gene Facts External Data Attribution
- HGNC Symbol
- TMEM247 (HGNC:42967) HGNC Entrez Ensembl UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transmembrane protein 247
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 70.53(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.48(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:46706704-46711562 NCBI Ensembl UCSC GRCh38/hg38: chr2:46479565-46484425 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001424184.1 ENST00000434431.2 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30029
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)
