NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr) AND not specified
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 26, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000508080.8
Allele description [Variation Report for NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr)]
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Mar 4, 2023