NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000726801.14
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:
- none provided
- Identifiers:
- MedGen: C3661900
-
Catolobus pendulus voucher Huangxw1263 ribulose-1,5-bisphosphate carboxylase/oxy...
Catolobus pendulus voucher Huangxw1263 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplastgi|2246791736|gb|MT885696.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024