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)
-
PREDICTED: Canis lupus familiaris cardiomyopathy associated 5 (CMYA5), mRNA
PREDICTED: Canis lupus familiaris cardiomyopathy associated 5 (CMYA5), mRNAgi|1953357236|ref|XM_038660527.1|Nucleotide
-
Mus musculus tripartite motif-containing 13 (Trim13), transcript variant 2, mRNA
Mus musculus tripartite motif-containing 13 (Trim13), transcript variant 2, mRNAgi|255982499|ref|NM_023233.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023