NM_000135.4(FANCA):c.1567G>T (p.Val523Phe) AND Fanconi anemia complementation group A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003143469.3
Allele description [Variation Report for NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)]
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
Condition(s)
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RecName: Full=Putative uncharacterized protein CELF2-AS1; AltName: Full=CELF2 an...
RecName: Full=Putative uncharacterized protein CELF2-AS1; AltName: Full=CELF2 antisense RNA 1; AltName: Full=CELF2 antisense gene protein 1; Flags: Precursorgi|215273955|sp|Q8N7Q2.2|CEAS1_HUMAProtein
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Taxonomy Links for Protein (Select 1352912082) (1)
Taxonomy
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SRA Links for BioSample (Select 38084804) (1)
SRA
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Component Of for Nucleotide (Select 1539176579) (13)
Nucleotide
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PubChem Same Substances for PubChem Compound (Select 186907) (128)
PubChem Substance
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See more...Assertion and evidence details
Last Updated: Mar 16, 2024