NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter) AND Fanconi anemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003779026.2
Allele description [Variation Report for NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)]
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
Condition(s)
-
myosin-binding protein H [Mus musculus]
myosin-binding protein H [Mus musculus]gi|56676318|ref|NP_058029.2|Protein
-
OT_ostta13g02520 [Ostreococcus tauri]
OT_ostta13g02520 [Ostreococcus tauri]Gene ID:34946343Gene
-
DLEC1 DLEC1 cilia and flagella associated protein [Homo sapiens]
DLEC1 DLEC1 cilia and flagella associated protein [Homo sapiens]Gene ID:9940Gene
-
Gene Links for Nucleotide (Select 1890274643) (1)
Gene
-
OMIM Links for Nucleotide (Select 1890274643) (1)
OMIM
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024