Full data view for gene ADAMTS4

Information The variants shown are described using the NM_005099.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-20085C>T r.(?) p.(=) Unknown - likely benign g.161188502G>A g.161218712G>A FCER1G(NM_004106.1):c.187G>A (p.(Gly63Ser)) - ADAMTS4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15099G>A r.(?) p.(=) Unknown - benign g.161183516C>T g.161213726C>T NDUFS2(NM_001166159.1):c.1290C>T (p.A430=) - NDUFS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-14848C>T r.(?) p.(=) Unknown - likely benign g.161183265G>A g.161213475G>A - - ADAMTS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12086del r.(?) p.(=) Unknown - VUS g.161180504del g.161210714del NDUFS2(NM_001166159.1):c.986+4delA - ADAMTS4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10598C>T r.(?) p.(=) Unknown - likely benign g.161179015G>A g.161209225G>A NDUFS2(NM_001166159.1):c.426G>A (p.V142=) - ADAMTS4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1091G>A r.(?) p.(Gly364Asp) Unknown - likely benign g.161165425C>T g.161195635C>T ADAMTS4(NM_005099.4):c.1091G>A (p.(Gly364Asp)) - ADAMTS4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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