All variants in the FAM47B gene

Information The variants shown are described using the NM_152631.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.1256G>C r.(?) p.(Arg419Pro) - VUS g.34962204G>C g.34944087G>C FAM47B(NM_152631.2):c.1256G>C (p.(Arg419Pro)) - FAM47B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 1 c.1256G>C r.(?) p.(Arg419Pro) - VUS g.34962204G>C g.34944087G>C R419P - FAM47B_000005 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
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