Unique variants in gene USP18

Information The variants shown are described using the NM_017414.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.-107+14T>A r.(=) p.(=) - likely benign g.18633003T>A - USP18(NM_017414.3):c.-107+14T>A - USP18_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-107+15C>T r.(=) p.(=) - likely benign g.18633004C>T - USP18(NM_017414.3):c.-107+15C>T - USP18_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.5G>A r.(?) p.(Ser2Asn) - likely benign g.18640435G>A - USP18(NM_017414.3):c.5G>A (p.S2N) - USP18_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.80A>G r.(?) p.(Glu27Gly) - likely benign g.18640510A>G - USP18(NM_017414.3):c.80A>G (p.E27G) - USP18_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.233A>C r.(?) p.(Asp78Ala) - likely benign g.18643014A>C - USP18(NM_017414.3):c.233A>C (p.(Asp78Ala)) - USP18_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.295G>A r.(?) p.(Val99Ile) - likely benign g.18644597G>A - USP18(NM_017414.3):c.295G>A (p.(Val99Ile)) - USP18_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.866G>A r.(?) p.(Arg289Gln) - likely benign g.18653662G>A - USP18(NM_017414.3):c.866G>A (p.R289Q) - USP18_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.907G>A r.(?) p.(Glu303Lys) - likely benign g.18655932G>A - USP18(NM_017414.3):c.907G>A (p.E303K) - USP18_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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