All variants in the XPC gene

Information The variants shown are described using the NM_004628.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.*4288C>G r.(=) p.(=) - likely benign g.14183153G>C g.14141653G>C TMEM43(NM_024334.2):c.1061G>C (p.C354S) - TMEM43_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*4288C>G r.(=) p.(=) - likely benign g.14183153G>C g.14141653G>C TMEM43(NM_024334.2):c.1061G>C (p.C354S) - TMEM43_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*4288C>G r.(=) p.(=) - likely benign g.14183153G>C g.14141653G>C TMEM43(NM_024334.2):c.1061G>C (p.C354S) - TMEM43_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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