NM_001083116.3(PRF1):c.1454A>G (p.Gln485Arg) AND Familial hemophagocytic lymphohistiocytosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002726692.2
Allele description [Variation Report for NM_001083116.3(PRF1):c.1454A>G (p.Gln485Arg)]
NM_001083116.3(PRF1):c.1454A>G (p.Gln485Arg)
Condition(s)
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ILITYHIA [Arabidopsis thaliana]
ILITYHIA [Arabidopsis thaliana]gi|240254318|ref|NP_176659.6|Protein
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UNVERIFIED: Hedysarum petrovii voucher MHLZU7464 maturase K-like gene, partial s...
UNVERIFIED: Hedysarum petrovii voucher MHLZU7464 maturase K-like gene, partial sequence; chloroplastgi|2057220999|gb|MT449593.1|Nucleotide
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UNVERIFIED: Hedysarum petrovii voucher MHLZU7463 ribulose-1,5-bisphosphate carbo...
UNVERIFIED: Hedysarum petrovii voucher MHLZU7463 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit-like gene, partial sequence; chloroplastgi|2057220991|gb|MT449585.1|Nucleotide
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RecName: Full=ATPase GET3; AltName: Full=Arsenical pump-driving ATPase; AltName:...
RecName: Full=ATPase GET3; AltName: Full=Arsenical pump-driving ATPase; AltName: Full=Arsenite-stimulated ATPase; AltName: Full=Guided entry of tail-anchored proteins factor 3, ATPasegi|123914336|sp|Q0IIZ2.1|GET3_XENTRProtein
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Homo sapiens small nuclear RNA activating complex polypeptide 5 (SNAPC5), transc...
Homo sapiens small nuclear RNA activating complex polypeptide 5 (SNAPC5), transcript variant 5, non-coding RNAgi|1701944704|ref|NR_138061.2|Nucleotide
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Last Updated: Sep 29, 2024