NM_022725.4(FANCF):c.623C>A (p.Ala208Glu) AND Fanconi anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003009931.3
Allele description [Variation Report for NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)]
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)
Condition(s)
-
TBC1 domain family member 3 [Homo sapiens]
TBC1 domain family member 3 [Homo sapiens]gi|599044928|ref|NP_001116863.3|Protein
-
Homo sapiens myocyte enhancer factor 2D (MEF2D), transcript variant 1, mRNA
Homo sapiens myocyte enhancer factor 2D (MEF2D), transcript variant 1, mRNAgi|1519311832|ref|NM_005920.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024