NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) AND Neuronopathy, distal hereditary motor, autosomal dominant 8
- Germline classification:
- Likely 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:
- RCV000310273.5
Allele description [Variation Report for NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)]
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
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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Drosophila melanogaster clone DA1 18S ribosomal RNA gene, partial sequence
Drosophila melanogaster clone DA1 18S ribosomal RNA gene, partial sequencegi|472403259|gb|KC413939.1|Nucleotide
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Drosophila melanogaster clone DL1 18S ribosomal RNA gene, partial sequence
Drosophila melanogaster clone DL1 18S ribosomal RNA gene, partial sequencegi|472403258|gb|KC413938.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024