NM_053025.4(MYLK):c.4550A>T (p.His1517Leu) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003177722.1
Allele description
NM_053025.4(MYLK):c.4550A>T (p.His1517Leu)
Condition(s)
-
Homo sapiens mRNA for keratan sulfate Gal-6-sulfotransferase, complete cds
Homo sapiens mRNA for keratan sulfate Gal-6-sulfotransferase, complete cdsgi|2887402|dbj|AB003791.1|Nucleotide
-
DAZ1 deleted in azoospermia 1 [Homo sapiens]
DAZ1 deleted in azoospermia 1 [Homo sapiens]Gene ID:1617Gene
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See more...Assertion and evidence details
Last Updated: Apr 15, 2023