NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met) AND Brody myopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000349891.12
Allele description [Variation Report for NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met)]
NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met)
Condition(s)
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Homo sapiens kelch like family member 6 (KLHL6), mRNA
Homo sapiens kelch like family member 6 (KLHL6), mRNAgi|1150273509|ref|NM_130446.3|Nucleotide
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Homo sapiens, Similar to kelch-like 6 (Drosophila), clone IMAGE:5538114, mRNA
Homo sapiens, Similar to kelch-like 6 (Drosophila), clone IMAGE:5538114, mRNAgi|23273718|gb|BC037989.1|Nucleotide
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Homo sapiens kelch-like 6 (Drosophila), mRNA (cDNA clone MGC:40562 IMAGE:5213743...
Homo sapiens kelch-like 6 (Drosophila), mRNA (cDNA clone MGC:40562 IMAGE:5213743), complete cdsgi|21619049|gb|BC032348.1|Nucleotide
-
Homo sapiens TM2 domain containing 2, mRNA (cDNA clone MGC:11075 IMAGE:3688720),...
Homo sapiens TM2 domain containing 2, mRNA (cDNA clone MGC:11075 IMAGE:3688720), complete cdsgi|39644505|gb|BC004878.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024