NM_000130.5(F5):c.5716+20A>G AND Congenital factor V deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003763543.2
Allele description [Variation Report for NM_000130.5(F5):c.5716+20A>G]
NM_000130.5(F5):c.5716+20A>G
Condition(s)
- Name:
- Congenital factor V deficiency
- Synonyms:
- LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009210; MedGen: C0015499; OMIM: 227400
-
Truncus Arteriosus
Truncus ArteriosusThe arterial trunk arising from the fetal heart. During development, it divides into AORTA and the PULMONARY ARTERY.<br/>Year introduced: 1977MeSH
-
GOLGA4P2 golgin A4 pseudogene 2 [Homo sapiens]
GOLGA4P2 golgin A4 pseudogene 2 [Homo sapiens]Gene ID:192132Gene
-
IGHV3-29 immunoglobulin heavy variable 3-29 (pseudogene) [Homo sapiens]
IGHV3-29 immunoglobulin heavy variable 3-29 (pseudogene) [Homo sapiens]Gene ID:28440Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024