NM_000130.5(F5):c.5431A>T (p.Met1811Leu) AND Congenital factor V deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003763809.2
Allele description [Variation Report for NM_000130.5(F5):c.5431A>T (p.Met1811Leu)]
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
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
-
PREDICTED: Anas platyrhynchos Rho GTPase activating protein 29 (ARHGAP29), trans...
PREDICTED: Anas platyrhynchos Rho GTPase activating protein 29 (ARHGAP29), transcript variant X4, mRNAgi|1944878485|ref|XM_021271823.3|Nucleotide
-
Homo sapiens cDNA FLJ54568 complete cds, highly similar to T-complex protein 1 s...
Homo sapiens cDNA FLJ54568 complete cds, highly similar to T-complex protein 1 subunit etagi|221043885|dbj|AK302078.1|Nucleotide
-
olfactory receptor, family 2, subfamily B, member 3 [Homo sapiens]
olfactory receptor, family 2, subfamily B, member 3 [Homo sapiens]gi|119623587|gb|EAX03182.1||gnl|WGS |hCP42369Protein
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LOC115945164 [Homo sapiens]
LOC115945164 [Homo sapiens]Gene ID:115945164Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024