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GRXCR2 |
Gene Facts External Data Attribution
- HGNC Symbol
- GRXCR2 (HGNC:33862) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- glutaredoxin and cysteine rich domain containing 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DFNB101
- %HI
- 41.87(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.36(Read more about gnomAD LOEUF score)
- Cytoband
- 5q32
- Genomic Coordinates
-
GRCh37/hg19: chr5:145238084-145252577 NCBI Ensembl UCSC GRCh38/hg38: chr5:145857670-145931673 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001080516.2 ENST00000377976.3 (Read more about MANE Select)
- Function
- Could play a role in maintaining cochlear stereocilia bundles that are involved in sound detection. {ECO:0000269|PubMed:24619944}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6796
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_000005.9)
(NC_000005.10)
