NM_005585.5(SMAD6):c.1016A>T (p.His339Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002342902.2
Allele description [Variation Report for NM_005585.5(SMAD6):c.1016A>T (p.His339Leu)]
NM_005585.5(SMAD6):c.1016A>T (p.His339Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF),...
Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3, mRNA (cDNA clone IMAGE:3528075), partial cdsgi|40226334|gb|BC021255.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024