NM_172369.5(C1QC):c.424G>A (p.Ala142Thr) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004070792.1
Allele description [Variation Report for NM_172369.5(C1QC):c.424G>A (p.Ala142Thr)]
NM_172369.5(C1QC):c.424G>A (p.Ala142Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens chromosome 19 clone LLNLF-169H5, complete sequence
Homo sapiens chromosome 19 clone LLNLF-169H5, complete sequencegi|19551120|gnl|lanlchgs|169H5|gb|A 57.2|Nucleotide
-
TP30114
TP30114biosample
-
Model organism or animal sample from Trachemys venusta
Model organism or animal sample from Trachemys venustabiosample
-
Uncultured Acidobacteriaceae bacterium clone C3_95m_PrM_25 16S ribosomal RNA gen...
Uncultured Acidobacteriaceae bacterium clone C3_95m_PrM_25 16S ribosomal RNA gene, partial sequencegi|1248805283|gb|KY561576.1|Nucleotide
-
mastermind-like domain-containing protein 1 isoform 2 [Homo sapiens]
mastermind-like domain-containing protein 1 isoform 2 [Homo sapiens]gi|120952764|ref|NP_005482.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024