NM_144997.7(FLCN):c.202A>C (p.Ser68Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002486754.1
Allele description [Variation Report for NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)]
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)
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
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CJ680267 Y.Ogihara unpublished cDNA library Wh_OKCS Triticum aestivum cDNA clone...
CJ680267 Y.Ogihara unpublished cDNA library Wh_OKCS Triticum aestivum cDNA clone whok19m12 5', mRNA sequencegi|93188613|gnl|dbEST|38805590|dbj| 267.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024