m.5549G>A AND Mitochondrial encephalopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 1995
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000010163.2
Allele description [Variation Report for m.5549G>A]
m.5549G>A
Condition(s)
- Name:
- Mitochondrial encephalopathy
- Identifiers:
- MedGen: C1852373; Human Phenotype Ontology: HP:0006789
-
Apeiba uittienii (0)
ClinVar
-
Streptomyces albireticuli strain NRRL B1670 NODE_95_length_809_cov_113.551320, w...
Streptomyces albireticuli strain NRRL B1670 NODE_95_length_809_cov_113.551320, whole genome shotgun sequencegi|2168016868|ref|NZ_JAJQQS01000009 gnl|WGS:NZ_JAJQQS01|NODE_95_length_809_cov_113.551320Nucleotide
-
nssv2846773 (0)
Structure
-
nssv2845476 (0)
PopSet
-
dyslexia-associated protein KIAA0319-like protein isoform X1 [Mus musculus]
dyslexia-associated protein KIAA0319-like protein isoform X1 [Mus musculus]gi|1039766285|ref|XP_017175383.1|Protein
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See more...Assertion and evidence details
Last Updated: May 24, 2022