NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu) AND Familial hemophagocytic lymphohistiocytosis 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003516322.2
Allele description [Variation Report for NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu)]
NM_001083116.3(PRF1):c.134G>A (p.Gly45Glu)
Condition(s)
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family 78 glycoside hydrolase catalytic domain [Parabacteroides distasonis]
family 78 glycoside hydrolase catalytic domain [Parabacteroides distasonis]gi|1829885493|gnl|PRJNA231221|FOB23 0|gb|QIX63722.1|Protein
-
Model organism or animal sample from Pungitius hellenicus
Model organism or animal sample from Pungitius hellenicusbiosample
-
Alismatales internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA ...
Alismatales internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence.PopSet: 874529792PopSet
-
AOL_s00193g157 [Orbilia oligospora ATCC 24927]
AOL_s00193g157 [Orbilia oligospora ATCC 24927]Gene ID:22897963Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024