NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001527046.1
Allele description [Variation Report for NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)]
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens solute carrier family 11 member 2 (SLC11A2), transcript ...
PREDICTED: Homo sapiens solute carrier family 11 member 2 (SLC11A2), transcript variant X5, mRNAgi|2217289206|ref|XM_011538405.4|Nucleotide
-
regulating synaptic membrane exocytosis protein 2 isoform X23 [Homo sapiens]
regulating synaptic membrane exocytosis protein 2 isoform X23 [Homo sapiens]gi|530389412|ref|XP_005251163.1|Protein
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Chain J, Inner capsid protein VP2
Chain J, Inner capsid protein VP2gi|1890521664|pdb|6OJ3|JProtein
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Last Updated: Oct 13, 2024