All variants in the ZCCHC13 gene

Information The variants shown are described using the NM_203303.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.39C>T r.(=) p.(=) - likely benign g.73524140C>T g.74304305C>T G13G - ZCCHC13_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.45G>A r.(?) p.(Trp15*) - VUS g.73524146G>A g.74304311G>A - - ZCCHC13_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.45G>A r.(?) p.(Trp15Ter) - likely benign g.73524146G>A - ZCCHC13(NM_203303.2):c.45G>A (p.(Trp15*)) - ZCCHC13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.74G>C r.(?) p.(Gly25Ala) - likely benign g.73524175G>C - ZCCHC13(NM_203303.2):c.74G>C (p.(Gly25Ala)) - ZCCHC13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.103G>A r.(?) p.(Gly35Ser) - likely benign g.73524204G>A - ZCCHC13(NM_203303.3):c.103G>A (p.(Gly35Ser)) - ZCCHC13_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.132T>C r.(?) p.(Ser44=) - likely benign g.73524233T>C g.74304398T>C ZCCHC13(NM_203303.2):c.132T>C (p.S44=), ZCCHC13(NM_203303.3):c.132T>C (p.(Ser44=)) - ZCCHC13_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.132T>C r.(?) p.(Ser44=) - likely benign g.73524233T>C - ZCCHC13(NM_203303.2):c.132T>C (p.S44=), ZCCHC13(NM_203303.3):c.132T>C (p.(Ser44=)) - ZCCHC13_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.182T>C r.(?) p.(Val61Ala) - VUS g.73524283T>C g.74304448T>C - - ZCCHC13_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.331A>C r.(?) p.(Lys111Gln) - VUS g.73524432A>C - ZCCHC13(NM_203303.2):c.331A>C (p.(Lys111Gln)) - ZCCHC13_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.400G>C r.(?) p.(Gly134Arg) - VUS g.73524501G>C g.74304666G>C ZCCHC13(NM_203303.2):c.400G>C (p.(Gly134Arg)) - ZCCHC13_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.425A>G r.(?) p.(Asn142Ser) - VUS g.73524526A>G g.74304691A>G ZCCHC13(NM_203303.2):c.425A>G (p.(Asn142Ser)) - ZCCHC13_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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