NM_015447.4(CAMSAP1):c.3289C>T (p.Arg1097Trp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002864464.2
Allele description [Variation Report for NM_015447.4(CAMSAP1):c.3289C>T (p.Arg1097Trp)]
NM_015447.4(CAMSAP1):c.3289C>T (p.Arg1097Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
LRPPRC leucine rich pentatricopeptide repeat containing [Homo sapiens]
LRPPRC leucine rich pentatricopeptide repeat containing [Homo sapiens]Gene ID:10128Gene
-
Gene Links for GEO Profiles (Select 131604549) (1)
Gene
-
Fetal and adult reticulocytes
Fetal and adult reticulocytesAccession: GDS3814GEO DataSets
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Related DataSets for GEO Profiles (Select 68889800) (1)
GEO DataSets
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Atg12 autophagy related 12 [Rattus norvegicus]
Atg12 autophagy related 12 [Rattus norvegicus]Gene ID:361321Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024