All variants in the RAD51 gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_002875.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.144T>C r.(?) p.(Thr48=) - likely benign g.40993318T>C g.40701120T>C RAD51(NM_133487.3):c.144T>C (p.T48=) - RAD51_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.164C>T r.(?) p.(Ala55Val) - VUS g.40993338C>T g.40701140C>T RAD51(NM_133487.3):c.164C>T (p.A55V) - RAD51_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.391A>C r.(?) p.(Thr131Pro) - pathogenic g.41001270A>C g.40709072A>C - - RAD51_000002 dominant negative PubMed: Wang 2015, Journal: Wang 2015 - - De novo - - - 0 - Francis Lach
+?/? 9 c.877G>A r.(?) p.(Ala293Thr) - likely pathogenic g.41022153G>A g.40729955G>A - - RAD51_000001 yeast (c.351A>T) - - - De novo - - - 0 - Najim Ameziane
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