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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 not in 101 controls - - rs28363317 Germline ? 15/907 cases - 0 - Christine Rappaport
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 not in 101 controls - - rs28363317 Germline ? 5/159 BRCA1 carriers - 0 - Christine Rappaport
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 not in 101 controls - - rs28363317 Germline ? 1/76 BRCA2 carriers - 0 - Christine Rappaport
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 12/620 cases - 0 - Johan den Dunnen
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 3/480 cases - 0 - Johan den Dunnen
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 35/2912 controls - 0 - Johan den Dunnen
?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363317 Unknown ? 14/1053 cases - 0 - Ian Campbell
?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363317 Unknown ? 5/314 cases - 0 - Ian Campbell
?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - g.56798128A>G - - - RAD51C_000016 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363317 Unknown ? 3/267 cases - 0 - Ian Campbell
-/. - c.859A>G benign r.(?) p.(Thr287Ala) - g.56798128A>G - RAD51C:c.859A>G (T287A) - RAD51C_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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