All variants in the XPC gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.622-2A>G r.spl? p.? - pathogenic g.14207087T>C g.14165587T>C XPC(NM_004628.4):c.622-2A>G - XPC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.622-2A>G r.spl? p.? - pathogenic g.14207087T>C g.14165587T>C XPC(NM_004628.4):c.622-2A>G - XPC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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