Full data view for gene NAP1L2

Information The variants shown are described using the NM_021963.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.19C>G r.(?) p.(Arg7Gly) Unknown - likely benign g.72434310G>C - NAP1L2(NM_021963.3):c.19C>G (p.R7G, p.(Arg7Gly)) - NAP1L2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19C>G r.(?) p.(Arg7Gly) Unknown - likely benign g.72434310G>C - NAP1L2(NM_021963.3):c.19C>G (p.R7G, p.(Arg7Gly)) - NAP1L2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.184G>A r.(?) p.(Gly62Ser) Unknown - likely benign g.72434145C>T g.73214309C>T NAP1L2(NM_021963.3):c.184G>A (p.G62S) - NAP1L2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.343C>A r.(?) p.(Leu115Ile) Unknown - VUS g.72433986G>T g.73214150G>T NAP1L2(NM_021963.3):c.343C>A (p.L115I, p.(Leu115Ile)) - NAP1L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343C>A r.(?) p.(Leu115Ile) Unknown - VUS g.72433986G>T - NAP1L2(NM_021963.3):c.343C>A (p.L115I, p.(Leu115Ile)) - NAP1L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555G>A r.(?) p.(Met185Ile) Unknown - likely benign g.72433774C>T g.73213938C>T NAP1L2(NM_021963.3):c.555G>A (p.(Met185Ile)) - NAP1L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.556T>A r.(?) p.(Tyr186Asn) Unknown - likely benign g.72433773A>T g.73213937A>T NAP1L2(NM_021963.3):c.556T>A (p.Y186N) - NAP1L2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1356G>A r.(?) p.(Glu452=) Unknown - likely benign g.72432973C>T - NAP1L2(NM_021963.3):c.1356G>A (p.E452=) - NAP1L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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