NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys) AND Cystic fibrosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003283393.2
Allele description [Variation Report for NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)]
NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)
Condition(s)
-
RecName: Full=Diamine oxidase [copper-containing]; Short=Diamine oxidase; AltNam...
RecName: Full=Diamine oxidase [copper-containing]; Short=Diamine oxidase; AltName: Full=Amiloride-binding protein; AltName: Full=Amiloride-binding protein 1; AltName: Full=Amine oxidase copper domain-containing protein 1; AltName: Full=Histaminase; AltName: Full=Kidney amine oxidase; Short=KAO; Short=KDAO; Flags: Precursorgi|251757489|sp|P19801.4|AOC1_HUMANProtein
-
Tssr1580 AND (alive[prop]) (0)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024