NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala) AND Macrothrombocytopenia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852076.1
Allele description [Variation Report for NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)]
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)
Condition(s)
- Name:
- Macrothrombocytopenia
- Identifiers:
- MedGen: C2751260; Human Phenotype Ontology: HP:0040185
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Scolytus multistriatus voucher MPQCIQCUR17303-02 cytochrome oxidase subunit I (C...
Scolytus multistriatus voucher MPQCIQCUR17303-02 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|1509279267|gb|MH159096.1|Nucleotide
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Xenopus tropicalis optic atrophy 1 (autosomal dominant) (opa1), mRNA; nuclear ge...
Xenopus tropicalis optic atrophy 1 (autosomal dominant) (opa1), mRNA; nuclear gene for mitochondrial productgi|1756613134|ref|NM_001127038.2|Nucleotide
-
kelch domain-containing protein 3 isoform X1 [Homo sapiens]
kelch domain-containing protein 3 isoform X1 [Homo sapiens]gi|2462605896|ref|XP_054210164.1|Protein
-
Xenopus clivii voucher AB3816 large subunit ribosomal RNA gene, partial sequence...
Xenopus clivii voucher AB3816 large subunit ribosomal RNA gene, partial sequence; mitochondrialgi|2504469286|gb|OQ975263.1|Nucleotide
-
RecName: Full=Kelch domain-containing protein 3; AltName: Full=Testis intracellu...
RecName: Full=Kelch domain-containing protein 3; AltName: Full=Testis intracellular mediator proteingi|74752233|sp|Q9BQ90.1|KLDC3_HUMANProtein
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Last Updated: May 7, 2024