Full data view for gene ATP1A3

Information The variants shown are described using the NM_152296.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1323G>A r.(?) p.(Ala441=) Unknown - benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T g.41981616C>T ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323G>A r.(?) p.(Ala441=) Unknown - likely benign g.42485768C>T - ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=) - ATP1A3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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