NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp) AND Usher syndrome type 1B
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001277328.1
Allele description [Variation Report for NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp)]
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp)
Condition(s)
- Name:
- Usher syndrome type 1B (USH1B)
- Synonyms:
- Usher syndrome type IB
- Identifiers:
- MONDO: MONDO:0700087; MedGen: C2931206
-
Homo sapiens acyl-Coenzyme A binding domain containing 3, mRNA (cDNA clone MGC:7...
Homo sapiens acyl-Coenzyme A binding domain containing 3, mRNA (cDNA clone MGC:71593 IMAGE:4813993), complete cdsgi|38511511|gb|BC060792.1|Nucleotide
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Profile neighbors for GEO Profiles (Select 129258666) (200)
GEO Profiles
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Related DataSets for GEO Profiles (Select 129240147) (1)
GEO DataSets
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In vitro myoblast differentiation: time course
In vitro myoblast differentiation: time courseAccession: GDS5632GEO DataSets
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JGI_CAAR4679.rev NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7737403 3'...
JGI_CAAR4679.rev NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7737403 3', mRNA sequencegi|59206394|gnl|dbEST|27738705|gb|D 74.1|Nucleotide
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Last Updated: Aug 13, 2023