NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002519075.2
Allele description [Variation Report for NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)]
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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PREDICTED: Carassius auratus telethonin-like (LOC113115852), mRNA
PREDICTED: Carassius auratus telethonin-like (LOC113115852), mRNAgi|1469064882|ref|XM_026283520.1|Nucleotide
-
Homo sapiens ERCC excision repair 2, TFIIH core complex helicase subunit (ERCC2)...
Homo sapiens ERCC excision repair 2, TFIIH core complex helicase subunit (ERCC2), transcript variant 2, mRNAgi|1890283112|ref|NM_001130867.2|Nucleotide
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Last Updated: May 1, 2024