NM_000252.3(MTM1):c.944A>G (p.His315Arg) AND Severe X-linked myotubular myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002037305.3
Allele description [Variation Report for NM_000252.3(MTM1):c.944A>G (p.His315Arg)]
NM_000252.3(MTM1):c.944A>G (p.His315Arg)
Condition(s)
-
load function (653717)
PMC
-
Staphylococcus cohnii strain FDAARGOS_744 plasmid unnamed5
Staphylococcus cohnii strain FDAARGOS_744 plasmid unnamed5gi|1858699726|gb|CP054812.1|Nucleotide
-
Thyridium repens (0)
Nucleotide
-
shoe anesthesia (4443)
PMC
-
Taxillus matsudae ATP synthase F0 subunit 9 (atp9) gene, complete cds; mitochond...
Taxillus matsudae ATP synthase F0 subunit 9 (atp9) gene, complete cds; mitochondrialgi|2666918325|gb|OR505914.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024