NM_000492.4(CFTR):c.1175T>C (p.Val392Ala) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003235010.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)]
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
JGI_XZG20191.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7535794 3'...
JGI_XZG20191.rev NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7535794 3', mRNA sequencegi|57371848|gnl|dbEST|27098611|gb|C 50.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024