Unique variants in the FAM47B gene

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

20 entries on 1 page. Showing entries 1 - 20.
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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.53A>C r.(?) p.(Lys18Thr) - likely benign g.34961001A>C - FAM47B(NM_152631.2):c.53A>C (p.K18T) - FAM47B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.136C>G r.(?) p.(Gln46Glu) - likely benign g.34961084C>G g.34942967C>G FAM47B(NM_152631.2):c.136C>G (p.Q46E) - FAM47B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.277A>G r.(?) p.(Arg93Gly) - likely benign g.34961225A>G - FAM47B(NM_152631.2):c.277A>G (p.(Arg93Gly)) - FAM47B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.289C>T r.(?) p.(Leu97=) - likely benign g.34961237C>T - FAM47B(NM_152631.2):c.289C>T (p.L97=) - FAM47B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.331C>T r.(?) p.(Gln111*) - VUS g.34961279C>T g.34943162C>T Q111* - FAM47B_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.341G>A r.(?) p.(Arg114Gln) - VUS g.34961289G>A g.34943172G>A FAM47B(NM_152631.2):c.341G>A (p.(Arg114Gln)) - FAM47B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 1 c.358G>C r.(?) p.(Glu120Gln) - VUS g.34961306G>C g.34943189G>C E120Q - FAM47B_000010 recurrent, found 20 times PubMed: Tarpey 2009 - - Germline - 20/208 cases - - - Lucy Raymond
?/. 1 1 c.544T>C r.(?) p.(Tyr182His) - VUS g.34961492T>C g.34943375T>C Y182H - FAM47B_000011 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 1 - c.854C>T r.(?) p.(Pro285Leu) - VUS g.34961802C>T - FAM47B(NM_152631.2):c.854C>T (p.P285L) - FAM47B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.864C>G r.(?) p.(Pro288=) - likely benign g.34961812C>G g.34943695C>G FAM47B(NM_152631.2):c.864C>G (p.P288=) - FAM47B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.898C>A r.(?) p.(Pro300Thr) - likely benign g.34961846C>A - FAM47B(NM_152631.2):c.898C>A (p.P300T) - FAM47B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 1 c.1256G>C r.(?) p.(Arg419Pro) - VUS g.34962204G>C g.34944087G>C FAM47B(NM_152631.2):c.1256G>C (p.(Arg419Pro)), R419P - FAM47B_000005 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.1302T>C r.(?) p.(His434=) - likely benign g.34962250T>C g.34944133T>C FAM47B(NM_152631.2):c.1302T>C (p.H434=) - FAM47B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1379C>T r.(?) p.(Ser460Leu) - likely benign g.34962327C>T - FAM47B(NM_152631.2):c.1379C>T (p.S460L) - FAM47B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1401G>C r.(?) p.(Lys467Asn) - likely benign g.34962349G>C g.34944232G>C FAM47B(NM_152631.2):c.1401G>C (p.K467N) - FAM47B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.1649C>T r.(?) p.(Pro550Leu) - VUS g.34962597C>T g.34944480C>T P550L - FAM47B_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1759T>C r.(?) p.(Tyr587His) - likely benign g.34962707T>C - FAM47B(NM_152631.2):c.1759T>C (p.Y587H) - FAM47B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1854C>G r.(?) p.(Tyr618*) - VUS g.34962802C>G - FAM47B(NM_152631.2):c.1854C>G (p.Y618*) - FAM47B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.1861G>A r.(?) p.(Val621Ile) - VUS g.34962809G>A g.34944692G>A V621I - FAM47B_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.*23A>C r.(=) p.(=) - VUS g.34962909A>C g.34944792A>C - - FAM47B_000001 - - - - Germline - - - - - Yu Sun
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