NM_000492.4(CFTR):c.2901G>A (p.Leu967=) AND Cystic fibrosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003508683.2
Allele description [Variation Report for NM_000492.4(CFTR):c.2901G>A (p.Leu967=)]
NM_000492.4(CFTR):c.2901G>A (p.Leu967=)
Condition(s)
-
RecName: Full=Heat shock 70 kDa protein BIP2; AltName: Full=Heat shock 70 kDa pr...
RecName: Full=Heat shock 70 kDa protein BIP2; AltName: Full=Heat shock 70 kDa protein 12; AltName: Full=Heat shock protein 70-12; Short=AtHsp70-12; AltName: Full=Luminal-binding protein 2; Short=AtBP2; Short=BiP2; Flags: Precursorgi|12643245|sp|Q39043.2|BIP2_ARATHProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024