NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Feb 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000844912.9
Allele description [Variation Report for NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)]
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
Condition(s)
- Name:
- Autosomal dominant nonsyndromic hearing loss 11
- Synonyms:
- Deafness, autosomal dominant 11
- Identifiers:
- MONDO: MONDO:0011032; MedGen: C1832475; Orphanet: 90635; OMIM: 601317
-
Rattus norvegicus synaptotagmin 10 (Syt10), mRNA
Rattus norvegicus synaptotagmin 10 (Syt10), mRNAgi|2708437898|ref|NM_031666.3|Nucleotide
-
sorting nexin-16 isoform a [Homo sapiens]
sorting nexin-16 isoform a [Homo sapiens]gi|23238244|ref|NP_071416.2|Protein
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024