NM_001127178.3(PIGG):c.711C>G (p.Ser237Arg) AND Intellectual disability, autosomal recessive 53
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000694899.9
Allele description [Variation Report for NM_001127178.3(PIGG):c.711C>G (p.Ser237Arg)]
NM_001127178.3(PIGG):c.711C>G (p.Ser237Arg)
Condition(s)
- Name:
- Intellectual disability, autosomal recessive 53 (NEDHSCA)
- Synonyms:
- GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13; Mental retardation, autosomal recessive 53; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY
- Identifiers:
- MONDO: MONDO:0014832; MedGen: C4310794; OMIM: 616917
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prothrombin precursor [Rattus norvegicus]
prothrombin precursor [Rattus norvegicus]gi|161333847|ref|NP_075213.2|Protein
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hepcidin preproprotein [Homo sapiens]
hepcidin preproprotein [Homo sapiens]gi|10863973|ref|NP_066998.1|Protein
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hypothetical protein Ec20 [Enterobacter phage Ec_L1]
hypothetical protein Ec20 [Enterobacter phage Ec_L1]gi|1336442898|gb|AUV57134.1|Protein
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Influenza A virus (A/New York/4947/2009(H1N1)) segment 1, complete sequence
Influenza A virus (A/New York/4947/2009(H1N1)) segment 1, complete sequencegi|291092961|gnl|NIGSP|NIGSP_SGS_00 B2|gb|CY056426.1|Nucleotide
-
DB506535 RIKEN full-length enriched human cDNA library, hypothalamus Homo sapien...
DB506535 RIKEN full-length enriched human cDNA library, hypothalamus Homo sapiens cDNA clone H033099G14 5', mRNA sequencegi|90932837|gnl|dbEST|37967194|dbj| 535.1|Nucleotide
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Last Updated: Feb 28, 2024