NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) AND multiple conditions
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000764131.12
Allele description [Variation Report for NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)]
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
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
-
60S ribosomal protein L14-2 [Cucumis sativus]
60S ribosomal protein L14-2 [Cucumis sativus]gi|449432536|ref|XP_004134055.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024