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.142C>T r.(?) p.(Leu48Phe) - benign g.14214524G>A g.14173024G>A XPC(NM_001145769.1):c.142C>T (p.(Leu48Phe)), XPC(NM_004628.4):c.142C>T (p.L48F) - XPC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.142C>T r.(?) p.(Leu48Phe) - likely benign g.14214524G>A g.14173024G>A XPC(NM_001145769.1):c.142C>T (p.(Leu48Phe)), XPC(NM_004628.4):c.142C>T (p.L48F) - XPC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.142C>T r.(?) p.(Leu48Phe) - likely benign g.14214524G>A g.14173024G>A - - XPC_000015 78 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229089 Germline - 78/2795 individuals - 0 - Mohammed Faruq
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