NM_000447.3(PSEN2):c.519C>T (p.Ile173=) AND Alzheimer disease 4
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002201091.6
Allele description [Variation Report for NM_000447.3(PSEN2):c.519C>T (p.Ile173=)]
NM_000447.3(PSEN2):c.519C>T (p.Ile173=)
Condition(s)
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Homo sapiens ATPase, class I, type 8B, member 3, mRNA (cDNA clone MGC:43311 IMAG...
Homo sapiens ATPase, class I, type 8B, member 3, mRNA (cDNA clone MGC:43311 IMAGE:5265541), complete cdsgi|34192848|gb|BC035162.2|Nucleotide
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SIRT5 sirtuin 5 [Homo sapiens]
SIRT5 sirtuin 5 [Homo sapiens]Gene ID:23408Gene
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Gene Links for GEO Profiles (Select 109393936) (1)
Gene
-
Chromosome neighbors for GEO Profiles (Select 109408984) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 109423893) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024