NM_004371.4(COPA):c.715G>C (p.Ala239Pro) AND Autoimmune interstitial lung disease-arthritis syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000700608.10
Allele description [Variation Report for NM_004371.4(COPA):c.715G>C (p.Ala239Pro)]
NM_004371.4(COPA):c.715G>C (p.Ala239Pro)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024