NM_021625.5(TRPV4):c.1491+10C>T AND Neuronopathy, distal hereditary motor, autosomal dominant 8
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000273307.5
Allele description [Variation Report for NM_021625.5(TRPV4):c.1491+10C>T]
NM_021625.5(TRPV4):c.1491+10C>T
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, autosomal dominant 8
- Synonyms:
- SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES; Distal spinal muscular atrophy, congenital nonprogressive; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010839; MedGen: C1838492; Orphanet: 1216; OMIM: 600175
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BioProject Links for Nucleotide (Select 2303504710) (1)
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BioProject Links for Nucleotide (Select 2362051628) (1)
BioProject
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Anaerovibrio sp. RM49 gene for 16S rRNA, partial sequence
Anaerovibrio sp. RM49 gene for 16S rRNA, partial sequencegi|444740567|dbj|AB730693.1|Nucleotide
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Taxonomy Links for Nucleotide (Select 944506646) (1)
Taxonomy
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Last Updated: Jun 9, 2024