NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) AND Usher syndrome type 1B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001279400.1
Allele description [Variation Report for NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)]
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)
Condition(s)
- Name:
- Usher syndrome type 1B (USH1B)
- Synonyms:
- Usher syndrome type IB
- Identifiers:
- MONDO: MONDO:0700087; MedGen: C2931206
-
Sox-12[Gene Symbol] AND (Homo sapiens[Organism] OR Mus musculus[O... (0)
Sox-12[Gene Symbol] AND (Homo sapiens[Organism] OR Mus musculus[Organism] OR Rattus norvegicus[Organism]) AND (ovary OR oocyte OR cumulus OR granulosa OR germ cells)SearchGEO Profiles
-
unnamed protein product, partial [Mus musculus]
unnamed protein product, partial [Mus musculus]gi|74217517|dbj|BAC31500.2|Protein
-
MAG: hypothetical protein AUI21_03720 [Nitrospirae bacterium 13_1_40CM_2_62_10]
MAG: hypothetical protein AUI21_03720 [Nitrospirae bacterium 13_1_40CM_2_62_10]gi|1125406819|gb|OLD40758.1||gnl|WG D|AUI21_03720Protein
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Last Updated: Aug 13, 2023