All transcript variants in gene ADAMTS4

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. - c.-20085C>T likely benign r.(?) p.(=) g.161188502G>A - FCER1G(NM_004106.1):c.187G>A (p.(Gly63Ser)) - ADAMTS4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-19368C>T likely benign r.(?) p.(=) g.161187785G>A - FCER1G(NM_004106.1):c.59G>A (p.(Gly20Glu)) - FCER1G_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-15099G>A benign r.(?) p.(=) g.161183516C>T - NDUFS2(NM_001166159.1):c.1290C>T (p.A430=) - NDUFS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-14848C>T likely benign r.(?) p.(=) g.161183265G>A - NDUFS2(NM_004550.4):c.1212G>A (p.(=)) - ADAMTS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-12086del VUS r.(?) p.(=) g.161180504del - NDUFS2(NM_001166159.1):c.986+4delA - ADAMTS4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-11770C>T likely benign r.(?) p.(=) g.161180187G>A - NDUFS2(NM_001166159.1):c.866+8G>A (p.(=)) - NDUFS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-10598C>T likely benign r.(?) p.(=) g.161179015G>A - NDUFS2(NM_001166159.1):c.426G>A (p.=) - ADAMTS4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-7906T>A likely benign r.(?) p.(=) g.161176323A>T - NDUFS2(NM_001166159.1):c.329A>T (p.(Asp110Val)) - ADAMTS4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1091G>A likely benign r.(?) p.(Gly364Asp) g.161165425C>T - ADAMTS4(NM_005099.4):c.1091G>A (p.(Gly364Asp)) - ADAMTS4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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