NM_007375.4(TARDBP):c.990A>G (p.Leu330=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003797737.2
Allele description [Variation Report for NM_007375.4(TARDBP):c.990A>G (p.Leu330=)]
NM_007375.4(TARDBP):c.990A>G (p.Leu330=)
Condition(s)
- Name:
- Amyotrophic lateral sclerosis type 10 (ALS10)
- Synonyms:
- AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; TARDBP-Related Amyotrophic Lateral Sclerosis; AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012790; MedGen: C2677565; Orphanet: 275872; Orphanet: 803; OMIM: 612069
- Name:
- TARDBP-related frontotemporal dementia
- Synonyms:
- FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- Identifiers:
- MedGen: C3150169
-
Damaliscus lunatus mitochondrion, complete genome
Damaliscus lunatus mitochondrion, complete genomegi|589144733|ref|NC_023543.1||gnl|N ENOMES|35629Nucleotide
-
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|74139811|dbj|BAE31750.1|Protein
-
stress-associated endoplasmic reticulum protein 1 [Mus musculus]
stress-associated endoplasmic reticulum protein 1 [Mus musculus]gi|21165517|dbj|BAB93547.1|Protein
-
dd84e10.y1 Wellcome CRC pcDNAI egg Xenopus laevis cDNA clone IMAGE:3431130 5', m...
dd84e10.y1 Wellcome CRC pcDNAI egg Xenopus laevis cDNA clone IMAGE:3431130 5', mRNA sequencegi|11781499|gnl|dbEST|7123682|gb|BF 6.1|Nucleotide
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Last Updated: Sep 29, 2024