Full data view for gene FAM47B

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

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.53A>C r.(?) p.(Lys18Thr) Unknown - likely benign g.34961001A>C - FAM47B(NM_152631.2):c.53A>C (p.K18T) - FAM47B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.136C>G r.(?) p.(Gln46Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277A>G r.(?) p.(Arg93Gly) Unknown - likely benign g.34961225A>G - FAM47B(NM_152631.2):c.277A>G (p.(Arg93Gly)) - FAM47B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289C>T r.(?) p.(Leu97=) Unknown - likely benign g.34961237C>T - FAM47B(NM_152631.2):c.289C>T (p.L97=) - FAM47B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.331C>T r.(?) p.(Gln111*) Parent #1 - VUS g.34961279C>T g.34943162C>T Q111* - FAM47B_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.341G>A r.(?) p.(Arg114Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.358G>C r.(?) p.(Glu120Gln) Parent #1 - VUS g.34961306G>C g.34943189G>C E120Q - FAM47B_000010 recurrent, found 20 times PubMed: Tarpey 2009 - - Germline - 20/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 20 Lucy Raymond
?/. 1 c.544T>C r.(?) p.(Tyr182His) Parent #1 - VUS g.34961492T>C g.34943375T>C Y182H - FAM47B_000011 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. - c.854C>T r.(?) p.(Pro285Leu) Unknown - VUS g.34961802C>T - FAM47B(NM_152631.2):c.854C>T (p.P285L) - FAM47B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864C>G r.(?) p.(Pro288=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.898C>A r.(?) p.(Pro300Thr) Unknown - likely benign g.34961846C>A - FAM47B(NM_152631.2):c.898C>A (p.P300T) - FAM47B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1256G>C r.(?) p.(Arg419Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 1 c.1256G>C r.(?) p.(Arg419Pro) Parent #1 - VUS g.34962204G>C g.34944087G>C R419P - FAM47B_000005 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1302T>C r.(?) p.(His434=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1379C>T r.(?) p.(Ser460Leu) Unknown - likely benign g.34962327C>T - FAM47B(NM_152631.2):c.1379C>T (p.S460L) - FAM47B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1401G>C r.(?) p.(Lys467Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.1649C>T r.(?) p.(Pro550Leu) Parent #1 - VUS g.34962597C>T g.34944480C>T P550L - FAM47B_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1759T>C r.(?) p.(Tyr587His) Unknown - likely benign g.34962707T>C - FAM47B(NM_152631.2):c.1759T>C (p.Y587H) - FAM47B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1854C>G r.(?) p.(Tyr618*) Unknown - VUS g.34962802C>G - FAM47B(NM_152631.2):c.1854C>G (p.Y618*) - FAM47B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.1861G>A r.(?) p.(Val621Ile) Parent #1 - VUS g.34962809G>A g.34944692G>A V621I - FAM47B_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.*23A>C r.(=) p.(=) Maternal (inferred) - VUS g.34962909A>C g.34944792A>C - - FAM47B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*23A>C r.(=) p.(=) Maternal (inferred) - VUS g.34962909A>C g.34944792A>C - - FAM47B_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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