NM_000136.3(FANCC):c.1329+1del AND Fanconi anemia complementation group C
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460187.1
Allele description [Variation Report for NM_000136.3(FANCC):c.1329+1del]
NM_000136.3(FANCC):c.1329+1del
Condition(s)
-
rho guanine nucleotide exchange factor 9 isoform 1 [Homo sapiens]
rho guanine nucleotide exchange factor 9 isoform 1 [Homo sapiens]gi|1591612787|ref|NP_001355959.1|Protein
-
Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transc...
Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 2, mRNAgi|38683867|ref|NM_017974.2|Nucleotide
-
FASTKD5 AND (alive[prop]) (818)
Gene
-
ZNF579 zinc finger protein 579 [Homo sapiens]
ZNF579 zinc finger protein 579 [Homo sapiens]Gene ID:163033Gene
-
163033[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023