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.

7 entries on 1 page. Showing entries 1 - 7.
Legend  

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     
-?/. 3i c.572-17G>T - r.(=) p.(=) - g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 11/907 cases - 0 - Christine Rappaport
-?/. 3i c.572-17G>T - r.(=) p.(=) - g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 2/159 BRCA1 carriers - 0 - Christine Rappaport
-?/. 3i c.572-17G>T - r.(=) p.(=) - g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 2/76 BRCA2 carriers - 0 - Christine Rappaport
-?/. 3i c.572-17G>T - r.(=) p.(=) - g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 1/101 controls - 0 - Christine Rappaport
?/. 3i c.572-17G>T - r.(spl?) p.(?) - g.56780540G>T - - - RAD51C_000020 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 2/1053 cases - 0 - Ian Campbell
?/. 3i c.572-17G>T - r.(spl?) p.(?) - g.56780540G>T - - - RAD51C_000020 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/190 controls - 0 - Ian Campbell
-/. - c.572-17G>T benign r.(=) p.(=) - g.56780540G>T - RAD51C:c.572-17G>T - RAD51C_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
Legend