NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys) AND Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002287700.1
Allele description [Variation Report for NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)]
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
Condition(s)
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Ephemeroptera sp. LACM RW17.132.3510 voucher LACM:RW17.132.3510 large subunit ri...
Ephemeroptera sp. LACM RW17.132.3510 voucher LACM:RW17.132.3510 large subunit ribosomal RNA gene, partial sequence; mitochondrialgi|1799953385|gb|MN982290.1|Nucleotide
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APOA5 apolipoprotein A5 [Homo sapiens]
APOA5 apolipoprotein A5 [Homo sapiens]Gene ID:116519Gene
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Serum response factor SRF overexpression in embryonic stem cells
Serum response factor SRF overexpression in embryonic stem cellsAccession: GDS1014GEO DataSets
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See more...Assertion and evidence details
Last Updated: Oct 15, 2022