NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) AND Rabson-Mendenhall syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391259.5
Allele description [Variation Report for NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)]
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
Condition(s)
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Rattus norvegicus cDNA clone IMAGE:7311954, containing frame-shift errors
Rattus norvegicus cDNA clone IMAGE:7311954, containing frame-shift errorsgi|187469535|gb|BC167008.1|Nucleotide
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Homo sapiens chromosome 6 open reading frame 57, mRNA (cDNA clone MGC:104225 IMA...
Homo sapiens chromosome 6 open reading frame 57, mRNA (cDNA clone MGC:104225 IMAGE:6713316), complete cdsgi|75775193|gb|BC104649.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023