NM_001267550.2(TTN):c.*913C>A AND Autosomal recessive limb-girdle muscular dystrophy type 2J
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000285761.5
Allele description [Variation Report for NM_001267550.2(TTN):c.*913C>A]
NM_001267550.2(TTN):c.*913C>A
Condition(s)
-
Haemosporida cytochrome b (cytb) gene, partial cds; mitochondrial.
Haemosporida cytochrome b (cytb) gene, partial cds; mitochondrial.PopSet: 145926812PopSet
-
PopSet Links for Taxonomy (Select 439456) (1)
PopSet
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"Revvity Omics, Revvity"[submitter] AND "JAK1"[gene] (3)
ClinVar
-
eggc.vipL4C (0)
BioProject
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023