N-Octadecanoyl-D-phenylalanine - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6309247	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,246,573-103,271,348 , GRCh38.p12 chr12: 102,852,795-102,877,570	PAH
nsv7094119	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,248,776-103,260,427 , GRCh38.p12 chr12: 102,854,998-102,866,649	PAH
nsv4768309	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,840,516-102,851,686 , GRCh37.p13 chr12: 103,234,294-103,245,464	PAH
nsv5564210	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,259,491-103,264,844 , GRCh38 chr12: 102,865,713-102,871,066	PAH
nsv5564131	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,245,031-103,249,845 , GRCh38 chr12: 102,851,253-102,856,067	PAH
nsv3878595	copy number variation	2	nstd102	human	Pathogenic, Likely pathogenic	GRCh38 chr12: 102,917,538-102,921,296 , GRCh37 chr12: 103,311,316-103,315,074	PAH
nsv5564132	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,866,370-102,868,040 , GRCh37 chr12: 103,260,148-103,261,818	PAH
nsv4684210	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,854,489-102,855,289 , GRCh37 chr12: 103,248,267-103,249,067	PAH
nsv5672790	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,248,268-103,249,067 , GRCh38.p12 chr12: 102,854,490-102,855,289	PAH
nsv3876540	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,854,491-102,855,289 , GRCh37 chr12: 103,248,269-103,249,067	PAH
nsv3877206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,248,894-103,249,130 , GRCh38.p12 chr12: 102,855,116-102,855,352	PAH
nsv4454090	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,855,126-102,855,342 , GRCh37 chr12: 103,248,904-103,249,120	PAH
nsv4682453	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,288,503-103,288,709 , GRCh38.p12 chr12: 102,894,725-102,894,931	PAH
nsv3971621	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,894,735-102,894,918 , GRCh37.p13 chr12: 103,288,513-103,288,696	PAH
nsv3884711	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,260,354-103,260,461 , GRCh38 chr12: 102,866,576-102,866,683	PAH
nsv4683566	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,260,364-103,260,451 , GRCh38.p12 chr12: 102,866,586-102,866,673	PAH
nsv4454434	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,917,061-102,917,140 , GRCh37 chr12: 103,310,839-103,310,918	PAH
nsv5381813	delins	2	nstd102	human	not provided, Pathogenic	GRCh37 chr12: 103,287,046-103,293,645 , GRCh38 chr12: 102,893,268-102,899,867	PAH
nsv7093433	delins	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,248,268-103,249,067 , GRCh38 chr12: 102,854,490-102,855,289	PAH
nsv6314270	delins	1	nstd102	human	Pathogenic	GRCh37 chr12: 103,248,933-103,249,131 , GRCh38 chr12: 102,855,155-102,855,353	PAH

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 25

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Number of Variants: 20

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Supplemental Content

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Search details

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