NM_002473.6(MYH9):c.2653C>T (p.Leu885=) AND Autosomal dominant nonsyndromic hearing loss 17
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001144931.4
Allele description [Variation Report for NM_002473.6(MYH9):c.2653C>T (p.Leu885=)]
NM_002473.6(MYH9):c.2653C>T (p.Leu885=)
Condition(s)
- Name:
- Autosomal dominant nonsyndromic hearing loss 17
- Synonyms:
- Deafness, autosomal dominant nonsyndromic sensorineural 17; Nonsyndromic hereditary deafness DFNA17; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011350; MedGen: C1863659; Orphanet: 90635; OMIM: 603622
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txid3052230[orgn] AND "isolate V0081"[All Fields] (2)
Nucleotide
-
Hepacivirus hominis isolate K043AC17 polyprotein gene, partial cds
Hepacivirus hominis isolate K043AC17 polyprotein gene, partial cdsgi|1578893990|gb|MK473290.1|Nucleotide
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Hepacivirus hominis strain PT8P NS3 protease gene, partial cds
Hepacivirus hominis strain PT8P NS3 protease gene, partial cdsgi|1026260013|gb|KU196280.1|Nucleotide
-
Hepacivirus C isolate S115_5H_20070319_A10 polyprotein gene, partial cds
Hepacivirus C isolate S115_5H_20070319_A10 polyprotein gene, partial cdsgi|2295814981|gb|OK553556.1|Nucleotide
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txid3052230[orgn] AND "isolate 2I44-09"[All Fields] (2)
Protein
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Last Updated: May 12, 2024