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)
-
cullin-associated NEDD8-dissociated protein 2 isoform 2 [Homo sapiens]
cullin-associated NEDD8-dissociated protein 2 isoform 2 [Homo sapiens]gi|112420977|ref|NP_036430.1|Protein
-
Homo sapiens protocadherin beta 1 (PCDHB1), mRNA
Homo sapiens protocadherin beta 1 (PCDHB1), mRNAgi|1777425430|ref|NM_013340.4|Nucleotide
-
uroporphyrinogen decarboxylase, partial [Elysia chlorotica]
uroporphyrinogen decarboxylase, partial [Elysia chlorotica]gi|297573435|gb|ADI46568.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024