NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) AND Connective tissue disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000659933.1
Allele description [Variation Report for NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)]
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
Assertion and evidence details
Last Updated: Feb 28, 2024