NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) AND Long QT syndrome 9
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2007
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000008794.2
Allele description [Variation Report for NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)]
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)
Condition(s)
-
Nucleotide Links for Protein (Select 2462603643) (2)
Nucleotide
-
PopSet Links for Nucleotide (Select 440497710) (1)
PopSet
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unclassified Bacteria 16S ribosomal RNA gene, partial sequence.
unclassified Bacteria 16S ribosomal RNA gene, partial sequence.PopSet: 440497697PopSet
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RecName: Full=Protein ABHD16B; AltName: Full=Alpha/beta hydrolase domain-contain...
RecName: Full=Protein ABHD16B; AltName: Full=Alpha/beta hydrolase domain-containing protein 16B; Short=Abhydrolase domain-containing protein 16Bgi|23813959|sp|Q9H3Z7.1|ABHGB_HUMANProtein
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Capsicum annuum voucher Chungyang ribulose 1,5-bisphosphate carboxylase (rbcL) g...
Capsicum annuum voucher Chungyang ribulose 1,5-bisphosphate carboxylase (rbcL) gene, partial cds; chloroplastgi|586598575|gb|KF917581.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024