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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
-?/. 2 c.195A>G - r.(?) p.(=) - g.56772341A>G - R65R - RAD51C_000018 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown ? 2/1053 cases - 0 - Ian Campbell
-?/. 2 c.195A>G - r.(?) p.(=) - g.56772341A>G - R65R - RAD51C_000018 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown ? 1/314 cases - 0 - Ian Campbell
-/. - c.195A>G benign r.(=) p.(=) - g.56772341A>G - RAD51C:c.195A>G (R65=) - RAD51C_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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