NM_002087.4(GRN):c.1253G>C (p.Arg418Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003100352.3
Allele description [Variation Report for NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)]
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)
Condition(s)
- Name:
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions (FTD2)
- Synonyms:
- FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLD-TDP, GRN-RELATED; Frontotemporal dementia, ubiquitin-positive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011842; MedGen: C1843792; Orphanet: 100070; Orphanet: 282; OMIM: 607485
-
zinc finger protein 33A isoform e [Homo sapiens]
zinc finger protein 33A isoform e [Homo sapiens]gi|498917327|ref|NP_001265102.1|Protein
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Homologene neighbors for GEO Profiles (Select 120963870) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 120950722) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 120963870) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 120939799) (20)
GEO Profiles
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Last Updated: Sep 29, 2024