NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer) AND Aortic valve disease 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003024007.3
Allele description [Variation Report for NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)]
NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)
Condition(s)
-
Mono-/di-acylglycerol lipase isoform 1 [Theobroma cacao]
Mono-/di-acylglycerol lipase isoform 1 [Theobroma cacao]gi|590620899|ref|XP_007024659.1||gn _WGS:ALXC|Thecc1EG029160p1Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024