NM_000455.5(STK11):c.1148G>A (p.Arg383His) AND Generalized juvenile polyposis/juvenile polyposis coli
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001356849.1
Allele description [Variation Report for NM_000455.5(STK11):c.1148G>A (p.Arg383His)]
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
Condition(s)
-
Homo sapiens chloride voltage-gated channel 7 (CLCN7), transcript variant 1, mRN...
Homo sapiens chloride voltage-gated channel 7 (CLCN7), transcript variant 1, mRNAgi|1519314054|ref|NM_001287.6|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024