NM_005585.5(SMAD6):c.1016A>T (p.His339Leu) AND Aortic valve disease 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003102668.3
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)
-
tyrosine-protein kinase TXK isoform X6 [Homo sapiens]
tyrosine-protein kinase TXK isoform X6 [Homo sapiens]gi|2462598765|ref|XP_054206753.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024