NM_002087.4(GRN):c.1243C>G (p.Gln415Glu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001999629.4
Allele description [Variation Report for NM_002087.4(GRN):c.1243C>G (p.Gln415Glu)]
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu)
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
Assertion and evidence details
Last Updated: Sep 29, 2024