NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp) AND C1Q deficiency 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003225881.8
Allele description [Variation Report for NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)]
NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)
Condition(s)
-
ribosomal protein L14 (chloroplast) [Angophora costata]
ribosomal protein L14 (chloroplast) [Angophora costata]gi|545719205|ref|YP_008578039.1|Protein
-
PREDICTED: nipped-B-like protein isoform X4 [Lepisosteus oculatus]
PREDICTED: nipped-B-like protein isoform X4 [Lepisosteus oculatus]gi|972956325|ref|XP_015195861.1|Protein
-
E3 ubiquitin-protein ligase RNF19A [Pteropus alecto]
E3 ubiquitin-protein ligase RNF19A [Pteropus alecto]gi|431901761|gb|ELK08638.1||gnl|WGS |PAL_GLEAN10021471Protein
-
SME173
SME173biosample
-
Escherichia coli EC291 plasmid pEC291_1 DNA, complete sequence
Escherichia coli EC291 plasmid pEC291_1 DNA, complete sequencegi|2463338797|dbj|AP027444.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024