NM_144997.7(FLCN):c.907G>T (p.Glu303Ter) AND Birt-Hogg-Dube syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003326280.2
Allele description [Variation Report for NM_144997.7(FLCN):c.907G>T (p.Glu303Ter)]
NM_144997.7(FLCN):c.907G>T (p.Glu303Ter)
Condition(s)
-
RecName: Full=TBC1 domain family member 3; AltName: Full=Prostate cancer gene 17...
RecName: Full=TBC1 domain family member 3; AltName: Full=Prostate cancer gene 17 protein; AltName: Full=Protein TRE17-alpha; AltName: Full=Rab GTPase-activating protein PRC17gi|294862542|sp|Q8IZP1.5|TBC3A_HUMAProtein
-
Hspa1b heat shock protein 1B [Mus musculus]
Hspa1b heat shock protein 1B [Mus musculus]Gene ID:15511Gene
-
15511[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024