NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) AND Microcephaly 9, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000302321.5
Allele description [Variation Report for NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr)]
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr)
Condition(s)
-
leucine-rich repeat and fibronectin type III domain-containing protein 1 isoform...
leucine-rich repeat and fibronectin type III domain-containing protein 1 isoform X1 [Rattus norvegicus]gi|1046843579|ref|XP_017444962.1|Protein
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Homo sapiens chromosome 20 WGS contig WGS_CEU_AL121914.31_93044 genomic sequence
Homo sapiens chromosome 20 WGS contig WGS_CEU_AL121914.31_93044 genomic sequencegi|527464693|gb|KF456952.1|Nucleotide
-
Homo sapiens Cas scaffolding protein family member 4, mRNA (cDNA clone MGC:34259...
Homo sapiens Cas scaffolding protein family member 4, mRNA (cDNA clone MGC:34259 IMAGE:5205865), complete cdsgi|20379731|gb|BC027951.1|Nucleotide
-
UI-R-CA1-bjw-c-12-0-UI.s1 UI-R-CA1 Rattus norvegicus cDNA clone UI-R-CA1-bjw-c-1...
UI-R-CA1-bjw-c-12-0-UI.s1 UI-R-CA1 Rattus norvegicus cDNA clone UI-R-CA1-bjw-c-12-0-UI 3', mRNA sequencegi|11398314|gnl|dbEST|6871181|gb|BF 9.1|Nucleotide
-
LOC127895452 [Homo sapiens]
LOC127895452 [Homo sapiens]Gene ID:127895452Gene
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Last Updated: Oct 13, 2024