NM_000128.4(F11):c.1059C>T (p.Asn353=) AND Plasma factor XI deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 22, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001277770.1
Allele description [Variation Report for NM_000128.4(F11):c.1059C>T (p.Asn353=)]
NM_000128.4(F11):c.1059C>T (p.Asn353=)
Condition(s)
- Name:
- Plasma factor XI deficiency
- Identifiers:
-
extended synaptotagmin-2 [Homo sapiens]
extended synaptotagmin-2 [Homo sapiens]gi|45387945|ref|NP_065779.1|Protein
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Last Updated: Sep 29, 2024