50287232 - dbVar

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Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4684109	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 619,583-619,584 , GRCh38 chr4: 625,794-625,795	PDE6B

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ClinVar
Clinical reports for this variation
dbSNP
Link from dbVar to dbSNP
Functional Class
Functional class of the sequence domain architecture
Gene
Link from dbVar to Gene
OMIM
Link from dbVar to OMIM
Pathways + GO
Pathways, annotations and biological systems (BioSystems) that cite genes containing current variations.
PubMed
Link from dbVar to PubMed
Taxonomy
Link from dbVar to Taxonomy

dbVar for OMIM (Select 180072) (2)
dbVar
cytochrome oxidase subunit 1, partial (mitochondrion) [Platygastridae sp. BOLD-2...
cytochrome oxidase subunit 1, partial (mitochondrion) [Platygastridae sp. BOLD-2016]
gi|1052432106|gb|AOC65757.1|

Protein
large ribosomal subunit protein eL29-like [Rattus norvegicus]
large ribosomal subunit protein eL29-like [Rattus norvegicus]
gi|2678908769|ref|XP_006253964.4|

Protein
LOC127397073 [Homo sapiens]
LOC127397073 [Homo sapiens]
Gene ID:127397073

Gene

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