NM_198271.5(LMOD3):c.1123T>C (p.Tyr375His) AND Nemaline myopathy 10
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001481284.12
Allele description [Variation Report for NM_198271.5(LMOD3):c.1123T>C (p.Tyr375His)]
NM_198271.5(LMOD3):c.1123T>C (p.Tyr375His)
Condition(s)
-
alpha-L-fucosidase [Phocaeicola vulgatus]
alpha-L-fucosidase [Phocaeicola vulgatus]gi|1966886703|gnl|PRJNA231221|I6I55 5|gb|QQY40065.1|Protein
-
Homo sapiens SIH002 mRNA, complete cds
Homo sapiens SIH002 mRNA, complete cdsgi|4689129|gb|AF077041.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024