NM_000128.4(F11):c.1011A>G (p.Ala337=) AND Plasma factor XI deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001277768.1
Allele description [Variation Report for NM_000128.4(F11):c.1011A>G (p.Ala337=)]
NM_000128.4(F11):c.1011A>G (p.Ala337=)
Condition(s)
- Name:
- Plasma factor XI deficiency
- Identifiers:
-
RecName: Full=Fibroblast growth factor 20; Short=FGF-20
RecName: Full=Fibroblast growth factor 20; Short=FGF-20gi|13626702|sp|Q9NP95.1|FGF20_HUMANProtein
-
S41 family peptidase [Entomomonas asaccharolytica]
S41 family peptidase [Entomomonas asaccharolytica]gi|1957372265|gnl|PRJNA689002|JHT90 5|gb|QQP85620.1|Protein
-
S41 family peptidase [Sphingobacterium faecium]
S41 family peptidase [Sphingobacterium faecium]gi|2306435424|gnl|PRJNA820789|MUK51 0|gb|UXD67946.1|Protein
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Last Updated: Apr 23, 2022