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.
Legend   How to query  

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.*4171C>T r.(=) p.(=) - VUS g.14183270G>A g.14141770G>A TMEM43(NM_024334.2):c.1178G>A (p.R393Q, p.(Arg393Gln)) - TMEM43_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*4171C>T r.(=) p.(=) - likely benign g.14183270G>A g.14141770G>A TMEM43(NM_024334.2):c.1178G>A (p.R393Q, p.(Arg393Gln)) - TMEM43_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query