NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg) AND Cystic fibrosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002284582.1
Allele description [Variation Report for NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)]
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
Condition(s)
-
SLC25A20 [Bison bison bison]
SLC25A20 [Bison bison bison]Gene ID:104997230Gene
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See more...Assertion and evidence details
Last Updated: Sep 24, 2022