Unique variants in the RAD54B gene

Information The variants shown are described using the NM_012415.3 transcript reference sequence.

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

Reported     

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     
?/. 1 - c.761G>A r.(?) p.(Arg254His) - VUS g.95419687C>T g.94407459C>T - - RAD54B_000002 - PubMed: Kiselev 2019 - rs766325819 Germline - - - - - Johan den Dunnen
-?/. 1 - c.1318G>T r.(?) p.(Ala440Ser) - likely benign g.95411702C>A g.94399474C>A RAD54B(NM_001205263.1):c.766G>T (p.A256S) - FSBP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1421T>C r.(?) p.(Ile474Thr) - VUS g.95406068A>G g.94393840A>G RAD54B(NM_001205263.1):c.869T>C (p.(Ile290Thr)) - RAD54B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1778A>G r.(?) p.(Asn593Ser) - pathogenic g.95403868T>C g.94391640T>C - - RAD54B_000003 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114216685 Germline - 9/2795 individuals - - - Mohammed Faruq
?/. 1 - c.2345A>G r.(?) p.(Gln782Arg) - VUS g.95390578T>C g.94378350T>C - - FSBP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2498G>A r.(?) p.(Gly833Glu) - likely benign g.95390425C>T g.94378197C>T RAD54B(NM_001205263.1):c.1946G>A (p.G649E) - FSBP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2649T>A r.(?) p.(Asn883Lys) - likely benign g.95384482A>T g.94372254A>T RAD54B(NM_001205263.1):c.2097T>A (p.N699K) - FSBP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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