NM_020338.4(ZMIZ1):c.389G>A (p.Ser130Asn) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004489018.1
Allele description [Variation Report for NM_020338.4(ZMIZ1):c.389G>A (p.Ser130Asn)]
NM_020338.4(ZMIZ1):c.389G>A (p.Ser130Asn)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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large ribosomal subunit protein eL33 [Homo sapiens]
large ribosomal subunit protein eL33 [Homo sapiens]gi|16117791|ref|NP_000987.2|Protein
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Cinara maghrebica voucher 819 cytochrome c oxidase subunit 1 (COI) gene, partial...
Cinara maghrebica voucher 819 cytochrome c oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|635262789|gb|KF649564.1|Nucleotide
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alpha-1-antitrypsin 1-1 isoform 1 precursor [Mus musculus]
alpha-1-antitrypsin 1-1 isoform 1 precursor [Mus musculus]gi|6678079|ref|NP_033269.1|Protein
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See more...Assertion and evidence details
Last Updated: May 7, 2024