NM_144997.7(FLCN):c.175C>T (p.Arg59Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002499066.1
Allele description [Variation Report for NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)]
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)
Condition(s)
- Name:
- Birt-Hogg-Dube syndrome
- Synonyms:
- BHD syndrome; Birt Hogg Dubé syndrome
- Identifiers:
- MONDO: MONDO:0800444; MedGen: C0346010; Orphanet: 122; OMIM: PS135150
- Name:
- Familial spontaneous pneumothorax (PSP)
- Synonyms:
- Pneumothorax, primary spontaneous
- Identifiers:
- MONDO: MONDO:0008259; MedGen: C1868193; Orphanet: 2903; OMIM: 173600
- Name:
- Potocki-Lupski syndrome (PTLS)
- Synonyms:
- Chromosome 17, trisomy 17p11 2; Trisomy 17p11 2; Duplication 17p11 2; See all synonyms [MedGen]
- Identifiers:
- Gene: 100038247; MONDO: MONDO:0012574; MedGen: C2931246; OMIM: 610883
-
checkpoint protein HUS1 isoform 1 [Mus musculus]
checkpoint protein HUS1 isoform 1 [Mus musculus]gi|6680331|ref|NP_032342.1|Protein
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RecName: Full=Small subunit processome component 20 homolog; AltName: Full=Down-...
RecName: Full=Small subunit processome component 20 homolog; AltName: Full=Down-regulated in metastasis protein; AltName: Full=Novel nucleolar protein 73; Short=NNP73; AltName: Full=Protein Key-1A6gi|296452999|sp|O75691.3|UTP20_HUMAProtein
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cytochrome c oxidase subunit 4 isoform 2, mitochondrial isoform X1 [Bos taurus]
cytochrome c oxidase subunit 4 isoform 2, mitochondrial isoform X1 [Bos taurus]gi|528974075|ref|XP_005214919.1|Protein
-
fam151b family with sequence similarity 151 member B [Danio rerio]
fam151b family with sequence similarity 151 member B [Danio rerio]Gene ID:445137Gene
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Last Updated: Oct 13, 2024