All transcript variants in gene RAD51C

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_058216.1 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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     
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 not in 76 BRCA2 carriers or 101 controls - - rs147241704 Germline ? 4/907 cases - 0 - Christine Rappaport
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 not in 76 BRCA2 carriers or 101 controls - - rs147241704 Germline ? 1/159 BRCA1 carriers - 0 - Christine Rappaport
?/. 5 c.790G>A - - p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected - - - In vitro (cloned) ? - - 0 - Christine Rappaport
-?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 3/620 cases - 0 - Johan den Dunnen
-?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 9/480 cases - 0 - Johan den Dunnen
-?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 16/2912 controls - 0 - Johan den Dunnen
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 8/1053 cases - 0 - Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 2/314 cases - 0 - Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 8/267 cases - 0 - Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/427 controls - 0 - Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/427 controls - 0 - Ian Campbell
-?/. - c.790G>A likely benign r.(?) p.(Gly264Ser) - g.56787304G>A - RAD51C:c.790G>A (G264S) - RAD51C_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.790G>A likely benign r.(?) p.(Gly264Ser) - g.56787304G>A - RAD51C:c.790G>A (G264S) - RAD51C_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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