NM_000492.4(CFTR):c.262_263del (p.Leu88fs) AND not specified
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 16, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000506648.8
Allele description [Variation Report for NM_000492.4(CFTR):c.262_263del (p.Leu88fs)]
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Gallus gallus family with sequence similarity 3 member B (FAM3B), tra...
PREDICTED: Gallus gallus family with sequence similarity 3 member B (FAM3B), transcript variant X2, mRNAgi|2201570957|ref|XM_416736.7|Nucleotide
-
LOC117414667 [Acipenser ruthenus]
LOC117414667 [Acipenser ruthenus]Gene ID:117414667Gene
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Last Updated: Oct 8, 2024