NM_030973.4(MED25):c.580C>T (p.Leu194=) AND Charcot-Marie-Tooth disease
- Germline classification:
- Likely benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001173447.1
Allele description [Variation Report for NM_030973.4(MED25):c.580C>T (p.Leu194=)]
NM_030973.4(MED25):c.580C>T (p.Leu194=)
Condition(s)
-
Brevibacterium casei strain PW10-co-37 16S ribosomal RNA gene, partial sequence
Brevibacterium casei strain PW10-co-37 16S ribosomal RNA gene, partial sequencegi|1182629385|gb|KY962956.1|Nucleotide
-
Chain A, Transitional endoplasmic reticulum ATPase (TER ATPase) (15S Mg(2+)- ATP...
Chain A, Transitional endoplasmic reticulum ATPase (TER ATPase) (15S Mg(2+)- ATPase p97 subunit) (Valosin containing protein) (VCP) [Contains: Valosin]gi|47168996|pdb|1S3S|AProtein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022