NM_000497.4(CYP11B1):c.392del (p.Leu131fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002596465.3
Allele description [Variation Report for NM_000497.4(CYP11B1):c.392del (p.Leu131fs)]
NM_000497.4(CYP11B1):c.392del (p.Leu131fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RecName: Full=Actin, cytoplasmic; AltName: Full=Actin, macronuclear
RecName: Full=Actin, cytoplasmic; AltName: Full=Actin, macronucleargi|113299|sp|P12715.1|ACT1_STENOProtein
-
coatomer subunit delta isoform 10 [Homo sapiens]
coatomer subunit delta isoform 10 [Homo sapiens]gi|2599597570|ref|NP_001412009.1|Protein
-
coatomer subunit delta isoform 5 [Homo sapiens]
coatomer subunit delta isoform 5 [Homo sapiens]gi|2599597540|ref|NP_001412004.1|Protein
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|158260189|dbj|BAF82272.1|Protein
-
zeh0160.seq.F Zebrafish Embryonic Heart cDNA Library Danio rerio cDNA 5', mRNA s...
zeh0160.seq.F Zebrafish Embryonic Heart cDNA Library Danio rerio cDNA 5', mRNA sequencegi|4093350|gnl|dbEST|2137011|gb|AI3 .1|Nucleotide
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Last Updated: Sep 29, 2024