NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004151805.1
Allele description [Variation Report for NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val)]
NM_005502.4(ABCA1):c.6034C>G (p.Leu2012Val)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
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Bacillus anthracis strain 34F2_Sterne NODE_59_length_260_cov_178, whole genome s...
Bacillus anthracis strain 34F2_Sterne NODE_59_length_260_cov_178, whole genome shotgun sequencegi|1258183083|ref|NZ_NRIV01000056.1 |WGS:NZ_NRIV01|NODE_59_length_260_cov_178Nucleotide
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Microbe sample from Bacillus anthracis
Microbe sample from Bacillus anthracisbiosample
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BioSample links for Nucleotide (Select 1253690782) (1)
BioSample
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Protein Links for PopSet (Select 2727453559) (48)
Protein
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Characidium cf. lagosantense voucher UFBA_PEI_4461 myosin heavy chain 6 (MYH6) g...
Characidium cf. lagosantense voucher UFBA_PEI_4461 myosin heavy chain 6 (MYH6) gene, partial cdsgi|2727453649|gb|OR021981.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 3, 2024