NM_001171508.2(MCFD2):c.-6-8078G>C AND not provided
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 10, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001577576.12
Allele description
NM_001171508.2(MCFD2):c.-6-8078G>C
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
PREDICTED: Homo sapiens annexin A8 (ANXA8), transcript variant X7, mRNA
PREDICTED: Homo sapiens annexin A8 (ANXA8), transcript variant X7, mRNAgi|2462520751|ref|XM_054366624.1|Nucleotide
-
annexin A8 isoform X5 [Homo sapiens]
annexin A8 isoform X5 [Homo sapiens]gi|2462520757|ref|XP_054222601.1|Protein
-
Homo sapiens multiple coagulation factor deficiency 2, ER cargo receptor complex...
Homo sapiens multiple coagulation factor deficiency 2, ER cargo receptor complex subunit (MCFD2), transcript variant 6, mRNAgi|1677476542|ref|NM_001171510.3|Nucleotide
-
Factor 5 and Factor VIII, combined deficiency of, 2
Factor 5 and Factor VIII, combined deficiency of, 2MedGen
-
C3150889[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024