dbVar for OMIM (Select 312170) - dbVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from OMIM

loading data ...

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4683242	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chrX: 18,660,114-19,377,781 , GRCh38.p12 chrX: 18,641,994-19,359,663	RS1, RN7SL48P, 12 more genes
nsv4578556	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chrX: 19,368,227-19,368,228 , GRCh38 chrX: 19,350,109-19,350,110	PDHA1
nsv997124	copy number variation	1	nstd45	human	Pathogenic	GRCh37 chrX: 19,362,011-19,379,825 , GRCh38.p12 chrX: 19,343,893-19,361,707	PDHA1, MAP3K15