NM_000260.4(MYO7A):c.981C>G (p.His327Gln) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002813119.2
Allele description [Variation Report for NM_000260.4(MYO7A):c.981C>G (p.His327Gln)]
NM_000260.4(MYO7A):c.981C>G (p.His327Gln)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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actin-related protein 3C isoform c [Homo sapiens]
actin-related protein 3C isoform c [Homo sapiens]gi|1187953376|ref|NP_001337957.1|Protein
-
SRX208222 (1)
SRA
-
PREDICTED: Lagopus muta alkaline ceramidase 1 (ACER1), mRNA
PREDICTED: Lagopus muta alkaline ceramidase 1 (ACER1), mRNAgi|2266291363|ref|XM_048927940.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 132488915) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 132488915) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: May 1, 2024