NM_032188.3(KAT8):c.926C>T (p.Pro309Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- 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:
- RCV004403695.1
Allele description [Variation Report for NM_032188.3(KAT8):c.926C>T (p.Pro309Leu)]
NM_032188.3(KAT8):c.926C>T (p.Pro309Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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recombination activating protein 2, partial [Astrochelys yniphora]
recombination activating protein 2, partial [Astrochelys yniphora]gi|749386481|gb|AJF15694.1|Protein
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PREDICTED: Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), tra...
PREDICTED: Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant X2, mRNAgi|2217290154|ref|XM_011538602.2|Nucleotide
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Homo sapiens KIAA0531 mRNA for KIAA0531 protein
Homo sapiens KIAA0531 mRNA for KIAA0531 proteingi|3043585|dbj|AB011103.1|Nucleotide
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Homo sapiens putative DNA dependent ATPase and helicase (ATRX) mRNA, alternative...
Homo sapiens putative DNA dependent ATPase and helicase (ATRX) mRNA, alternatively spliced product 2, complete cdsgi|6960325|gb|U72937.2|HSU72937Nucleotide
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Last Updated: May 7, 2024