NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 2, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000192941.7
Allele description [Variation Report for NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)]
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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Catolobus pendulus voucher TianXH231 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplastgi|2246791734|gb|MT885695.1|Nucleotide
-
Arabidopsis thaliana voucher BianFH-0165 ribulose-1,5-bisphosphate carboxylase/o...
Arabidopsis thaliana voucher BianFH-0165 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplastgi|2246791714|gb|MT885685.1|Nucleotide
-
Arabidopsis thaliana MIR395A-B gene, promoter region
Arabidopsis thaliana MIR395A-B gene, promoter regiongi|2735580268|gb|PP506744.1|Nucleotide
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Last Updated: Sep 29, 2024