Unique variants in gene ADAMTS4

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-20085C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.-15099G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.-14848C>T r.(?) p.(=) - likely benign g.161183265G>A g.161213475G>A - - ADAMTS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-12086del r.(?) p.(=) - VUS g.161180504del g.161210714del NDUFS2(NM_001166159.1):c.986+4delA - ADAMTS4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-10598C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
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