NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) AND Cystic fibrosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001853981.3
Allele description [Variation Report for NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)]
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys)
Condition(s)
-
superoxide dismutase [Mn], mitochondrial isoform B [Homo sapiens]
superoxide dismutase [Mn], mitochondrial isoform B [Homo sapiens]gi|1018191630|ref|NP_001309743.1|Protein
-
RecName: Full=Signal peptidase complex catalytic subunit SEC11C; AltName: Full=M...
RecName: Full=Signal peptidase complex catalytic subunit SEC11C; AltName: Full=Microsomal signal peptidase 21 kDa subunit; Short=SPase 21 kDa subunit; AltName: Full=SEC11 homolog C; AltName: Full=SEC11-like protein 3; AltName: Full=SPC21gi|17367427|sp|Q9WTR7.3|SC11C_RATProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024