NM_201631.4(TGM5):c.1940C>T (p.Ser647Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002865801.2
Allele description [Variation Report for NM_201631.4(TGM5):c.1940C>T (p.Ser647Leu)]
NM_201631.4(TGM5):c.1940C>T (p.Ser647Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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txid1952626[orgn] AND "isolate extra-SRR5927686 79 1677797676"[Al... (240)
txid1952626[orgn] AND "isolate extra-SRR5927686 79 1677797676"[All Fields]SearchNucleotide
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Conserved Domain Links for Gene (Select 258968) (1)
Conserved Domains
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Profile neighbors for GEO Profiles (Select 131953011) (110)
GEO Profiles
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Last Updated: May 1, 2024