NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) AND Leprechaunism 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:
- RCV000338672.5
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)
-
Homo sapiens sperm tail PG-rich repeat containing 1 (STPG1), transcript variant ...
Homo sapiens sperm tail PG-rich repeat containing 1 (STPG1), transcript variant 1, mRNAgi|1519244914|ref|NM_001199013.2|Nucleotide
-
Ctrb1 chymotrypsinogen B1 [Rattus norvegicus]
Ctrb1 chymotrypsinogen B1 [Rattus norvegicus]Gene ID:24291Gene
-
24291[uid] AND (alive[prop]) (1)
Gene
-
Homo sapiens zinc finger protein 30 homolog (mouse), mRNA (cDNA clone IMAGE:6052...
Homo sapiens zinc finger protein 30 homolog (mouse), mRNA (cDNA clone IMAGE:6052284)gi|30046772|gb|BC050542.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023