NM_144997.7(FLCN):c.619-20C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002505087.8
Allele description [Variation Report for NM_144997.7(FLCN):c.619-20C>T]
NM_144997.7(FLCN):c.619-20C>T
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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maltose alpha-D-glucosyltransferase [Azospirillum brasilense]
maltose alpha-D-glucosyltransferase [Azospirillum brasilense]gi|1634044643|gnl|PRJNA490424|D3868 5|gb|QCO08115.1|Protein
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maltose alpha-D-glucosyltransferase [Xanthomonas citri pv. citri]
maltose alpha-D-glucosyltransferase [Xanthomonas citri pv. citri]gi|2075419650|gnl|BCGABRC|HZS91_001 |QYF33541.1|Protein
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maltose alpha-D-glucosyltransferase [Streptomyces sp. SM17]
maltose alpha-D-glucosyltransferase [Streptomyces sp. SM17]gi|1390416273|gnl|PRJNA384120|B9S66 5|gb|AWL34831.1|Protein
-
maltose alpha-D-glucosyltransferase [Pseudomonas corrugata]
maltose alpha-D-glucosyltransferase [Pseudomonas corrugata]gi|2019157206|gnl|PRJNA433078|C4C32 5|gb|QTH16343.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024