NM_002087.4(GRN):c.1261G>A (p.Glu421Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001879151.4
Allele description [Variation Report for NM_002087.4(GRN):c.1261G>A (p.Glu421Lys)]
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys)
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
-
ETS translocation variant 3 isoform 2 [Homo sapiens]
ETS translocation variant 3 isoform 2 [Homo sapiens]gi|20270188|ref|NP_005231.1|Protein
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Last Updated: Sep 29, 2024