NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter) AND Anterior segment dysgenesis 6
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003468660.2
Allele description [Variation Report for NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)]
NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)
Condition(s)
-
LOC105375443 [Homo sapiens]
LOC105375443 [Homo sapiens]Gene ID:105375443Gene
-
FDBC8-1 DNA segment, FDBC8-1 [Mus musculus]
FDBC8-1 DNA segment, FDBC8-1 [Mus musculus]Gene ID:53099Gene
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024