NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003114513.9
Allele description [Variation Report for NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)]
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
JGI_CABC9238.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone CABC9238 3', mRN...
JGI_CABC9238.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone CABC9238 3', mRNA sequencegi|71496128|gnl|dbEST|30359897|gb|D 74.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024