NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) AND COL1A1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004549378.1
Allele description [Variation Report for NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)]
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)
Condition(s)
- Name:
- COL1A1-related disorder
- Synonyms:
- COL1A1-related disease; COL1A1-related condition
- Identifiers:
-
Cutibacterium avidum
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024