GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1 AND Sex reversal
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001090080.1
Allele description [Variation Report for GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1]
GRCh37/hg19 Yp11.31-11.2(chrY:2650140-6367818)x1
Condition(s)
- Name:
- Sex reversal
- Identifiers:
- MedGen: C4022995; Human Phenotype Ontology: HP:0012245
-
Homo sapiens BCL2 interacting protein like (BNIPL), transcript variant 1, mRNA
Homo sapiens BCL2 interacting protein like (BNIPL), transcript variant 1, mRNAgi|228008341|ref|NM_138278.3|Nucleotide
-
NACHT, LRR and PYD domains-containing protein 3 isoform X5 [Danio rerio]
NACHT, LRR and PYD domains-containing protein 3 isoform X5 [Danio rerio]gi|2800579376|ref|XP_068075553.1|Protein
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Last Updated: Mar 26, 2023