NM_053025.4(MYLK):c.4569G>A (p.Gln1523=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002340240.2
Allele description [Variation Report for NM_053025.4(MYLK):c.4569G>A (p.Gln1523=)]
NM_053025.4(MYLK):c.4569G>A (p.Gln1523=)
Condition(s)
-
Chaperone DnaJ-domain superfamily protein [Arabidopsis thaliana]
Chaperone DnaJ-domain superfamily protein [Arabidopsis thaliana]gi|15233838|ref|NP_192673.1|Protein
-
Triosephosphate isomerase deficiency
Triosephosphate isomerase deficiencyMedGen
-
TPI1 (1)
MedGen
-
adarb2 [Amphiprion ocellaris]
adarb2 [Amphiprion ocellaris]Gene ID:111565378Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024