Full data view for gene NOX5

Information The variants shown are described using the NM_024505.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.-1677992_*2850046del r.? p.? Unknown - pathogenic g.67629083_72199082del - - - MAP2K5_000011 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-84036C>T r.(?) p.(=) Unknown - likely benign g.69223039C>T - SPESP1(NM_145658.3):c.47C>T (p.(Ser16Phe)) - NOX5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-68768C>G r.(?) p.(=) Unknown - likely benign g.69238307C>G - SPESP1(NM_145658.3):c.434C>G (p.(Pro145Arg)) - NOX5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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