NM_004004.6(GJB2):c.250G>A (p.Val84Met) AND Progressive sensorineural hearing impairment
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626853.2
Allele description [Variation Report for NM_004004.6(GJB2):c.250G>A (p.Val84Met)]
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
Condition(s)
- Name:
- Progressive sensorineural hearing impairment
- Identifiers:
- MedGen: C1843156; Human Phenotype Ontology: HP:0000408
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Stellagama stellio voucher COMU-ZM-125-2007-2 cytochrome oxidase subunit I (COI)...
Stellagama stellio voucher COMU-ZM-125-2007-2 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|1788196844|gb|MN639687.1|Nucleotide
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Synthetic construct Homo sapiens clone IMAGE:100014760, MGC:175370 ADAM metallop...
Synthetic construct Homo sapiens clone IMAGE:100014760, MGC:175370 ADAM metallopeptidase domain 7 (ADAM7) mRNA, encodes complete proteingi|146327644|gb|BC141422.1|Nucleotide
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Chain A, Methyltransferase N6AMT1
Chain A, Methyltransferase N6AMT1gi|1870084717|pdb|6KHS|AProtein
-
Chain B, Multifunctional methyltransferase subunit TRM112-like protein
Chain B, Multifunctional methyltransferase subunit TRM112-like proteingi|1870084718|pdb|6KHS|BProtein
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Last Updated: Oct 26, 2024