NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe) AND Cystic fibrosis
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Nov 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001245313.9
Allele description [Variation Report for NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe)]
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe)
Condition(s)
-
Synthetic construct Homo sapiens clone IMAGE:100071817; CCSB013815_01 kallikrein...
Synthetic construct Homo sapiens clone IMAGE:100071817; CCSB013815_01 kallikrein-related peptidase 4 (KLK4) gene, encodes complete proteingi|312152715|gb|HQ448390.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024