All transcript variants in gene CUL9

Information The variants shown are described using the NM_015089.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

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     
-?/. - c.296G>A r.(?) p.(Ser99Asn) - likely benign g.43152344G>A g.43184606G>A CUL9(NM_015089.4):c.296G>A (p.S99N) - CUL9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.845G>A r.(?) p.(Gly282Glu) - likely benign g.43153787G>A g.43186049G>A CUL9(NM_015089.2):c.845G>A (p.(Gly282Glu)) - CUL9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.845G>A r.(?) p.(G282E) - VUS g.43153787G>A g.43186049G>A - - CUL9_000001 - - - rs61743561 Germline yes - - 0 - Xiang Jiao
-?/. - c.889C>A r.(?) p.(Gln297Lys) - likely benign g.43153831C>A g.43186093C>A CUL9(NM_015089.2):c.889C>A (p.(Gln297Lys)) - CUL9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1075C>G r.(?) p.(Gln359Glu) - likely benign g.43154017C>G g.43186279C>G CUL9(NM_015089.2):c.1075C>G (p.(Gln359Glu)) - CUL9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1890C>T r.(?) p.(Thr630=) - likely benign g.43155759C>T g.43188021C>T CUL9(NM_015089.4):c.1890C>T (p.T630=) - CUL9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2871_2873del r.(?) p.(Gly958del) - VUS g.43166414_43166416del g.43198676_43198678del - - CUL9_000004 - - - rs141674093 Germline yes - - 0 - Xiang Jiao
?/. - c.3511G>A r.(?) p.(Glu1171Lys) - VUS g.43168436G>A g.43200698G>A CUL9(NM_015089.4):c.3511G>A (p.E1171K) - CUL9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.5189G>A r.(?) p.(Arg1730His) - likely benign g.43174225G>A g.43206487G>A CUL9(NM_015089.4):c.5189G>A (p.R1730H) - CUL9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7166G>A r.(?) p.(Arg2389Gln) - likely benign g.43191017G>A g.43223279G>A CUL9(NM_015089.2):c.7166G>A (p.(Arg2389Gln)) - CUL9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*1397C>T r.(=) p.(=) - likely benign g.43193580C>T g.43225842C>T DNPH1(NM_006443.2):c.416G>A (p.(Arg139Gln)) - CUL9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*4971T>C r.(=) p.(=) - likely benign g.43197154T>C g.43229416T>C DNPH1(NM_006443.2):c.41A>G (p.(Glu14Gly)) - CUL9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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