Unique variants in the FAM47A gene

Information The variants shown are described using the NM_203408.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.137A>C r.(?) p.(Gln46Pro) - likely benign g.34150259T>G g.34132142T>G FAM47A(NM_203408.3):c.137A>C (p.(Gln46Pro)) - FAM47A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.196G>A r.(?) p.(Glu66Lys) - likely benign g.34150200C>T - FAM47A(NM_203408.3):c.196G>A (p.E66K) - FAM47A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 1 c.632T>C r.(?) p.(Leu211Pro) - likely benign, VUS g.34149764A>G g.34131647A>G FAM47A(NM_203408.3):c.632T>C (p.(Leu211Pro)), L211P - FAM47A_000025 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.703_738del r.(?) p.(Leu235_His246del) - likely benign g.34149676_34149711del g.34131559_34131594del FAM47A(NM_203408.3):c.703_738del (p.(Leu235_His246del)) - FAM47A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.742C>T r.(?) p.(Arg248Cys) - likely benign g.34149654G>A g.34131537G>A FAM47A(NM_203408.3):c.742C>T (p.R248C) - FAM47A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.749G>T r.(?) p.(Gly250Val) - likely benign g.34149647C>A - FAM47A(NM_203408.3):c.749G>T (p.G250V) - FAM47A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.773C>T r.(?) p.(Ser258Phe) - VUS g.34149623G>A - FAM47A(NM_203408.3):c.773C>T (p.S258F) - FAM47A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.980C>G r.(?) p.(Pro327Arg) - likely benign g.34149416G>C g.34131299G>C FAM47A(NM_203408.3):c.980C>G (p.(Pro327Arg)) - FAM47A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.989C>T r.(?) p.(Pro330Leu) - likely benign g.34149407G>A - FAM47A(NM_203408.3):c.989C>T (p.P330L) - FAM47A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.997G>A r.(?) p.(Gly333Arg) - VUS g.34149399C>T g.34131282C>T FAM47A(NM_203408.3):c.997G>A (p.G333R) - FAM47A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1013G>C r.(?) p.(Arg338Pro) - likely benign, VUS g.34149383C>G g.34131266C>G FAM47A(NM_203408.3):c.1013G>C (p.R338P, p.(Arg338Pro)) - FAM47A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1055C>T r.(?) p.(Ser352Leu) - likely benign, VUS g.34149341G>A g.34131224G>A FAM47A(NM_203408.3):c.1055C>T (p.S352L, p.(Ser352Leu)) - FAM47A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 1 c.1129G>T r.(?) p.(Ala377Ser) - VUS g.34149267C>A g.34131150C>A A377S - FAM47A_000027 recurrent, found 21 times PubMed: Tarpey 2009 - - Germline - 21/208 cases - - - Lucy Raymond
-?/. 1 - c.1220G>C r.(?) p.(Gly407Ala) - likely benign g.34149176C>G - FAM47A(NM_203408.3):c.1220G>C (p.G407A) - FAM47A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1343G>A r.(?) p.(Arg448Gln) - VUS g.34149053C>T - FAM47A(NM_203408.3):c.1343G>A (p.R448Q) - FAM47A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1438C>A r.(?) p.(Pro480Thr) - VUS g.34148958G>T g.34130841G>T FAM47A(NM_203408.3):c.1438C>A (p.P480T) - FAM47A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1453A>C r.(?) p.(Thr485Pro) - VUS g.34148943T>G g.34130826T>G FAM47A(NM_203408.3):c.1453A>C (p.T485P) - FAM47A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1475A>G r.(?) p.(His492Arg) - VUS g.34148921T>C g.34130804T>C FAM47A(NM_203408.3):c.1475A>G (p.(His492Arg)) - FAM47A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1502C>G r.(?) p.(Thr501Arg) - likely benign g.34148894G>C g.34130777G>C FAM47A(NM_203408.3):c.1502C>G (p.(Thr501Arg)) - FAM47A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1513C>G r.(?) p.(Arg505Gly) - VUS g.34148883G>C g.34130766G>C FAM47A(NM_203408.3):c.1513C>G (p.(Arg505Gly)) - FAM47A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1516T>C r.(?) p.(Ser506Pro) - VUS g.34148880A>G g.34130763A>G FAM47A(NM_203408.3):c.1516T>C (p.(Ser506Pro)) - FAM47A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1541C>G r.(?) p.(Thr514Arg) - VUS g.34148855G>C g.34130738G>C FAM47A(NM_203408.3):c.1541C>G (p.(Thr514Arg)) - FAM47A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1552C>G r.(?) p.(Arg518Gly) - VUS g.34148844G>C g.34130727G>C FAM47A(NM_203408.3):c.1552C>G (p.(Arg518Gly)) - FAM47A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1552_1590del r.(?) p.(Arg518_Leu530del) - likely benign g.34148877_34148915del g.34130760_34130798del FAM47A(NM_203408.3):c.1552_1590del (p.(Arg518_Leu530del)) - FAM47A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1553G>A r.(?) p.(Arg518His) - VUS g.34148843C>T g.34130726C>T FAM47A(NM_203408.3):c.1553G>A (p.(Arg518His)) - FAM47A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1554_1592del r.(?) p.(Ser519_Gly531del) - VUS g.34148805_34148843del g.34130688_34130726del FAM47A(NM_203408.3):c.1554_1592del (p.(Ser519_Gly531del)) - FAM47A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1555T>C r.(?) p.(Ser519Pro) - VUS g.34148841A>G g.34130724A>G FAM47A(NM_203408.3):c.1555T>C (p.(Ser519Pro)) - FAM47A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1558G>C r.(?) p.(Glu520Gln) - VUS g.34148838C>G g.34130721C>G FAM47A(NM_203408.3):c.1558G>C (p.(Glu520Gln)) - FAM47A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1707C>A r.(?) p.(Phe569Leu) - likely benign g.34148689G>T g.34130572G>T FAM47A(NM_203408.3):c.1707C>A (p.F569L) - FAM47A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1726C>G r.(?) p.(Arg576Gly) - VUS g.34148670G>C g.34130553G>C FAM47A(NM_203408.3):c.1726C>G (p.(Arg576Gly)) - FAM47A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1729G>A r.(?) p.(Ala577Thr) - VUS g.34148667C>T - FAM47A(NM_203408.3):c.1729G>A (p.A577T) - FAM47A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1830A>T r.(?) p.(Glu610Asp) - likely benign g.34148566T>A g.34130449T>A FAM47A(NM_203408.3):c.1830A>T (p.E610D) - FAM47A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1853T>A r.(?) p.(Leu618Gln) - VUS g.34148543A>T g.34130426A>T FAM47A(NM_203408.3):c.1853T>A (p.L618Q) - FAM47A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1918G>A r.(?) p.(Glu640Lys) - likely benign g.34148478C>T g.34130361C>T FAM47A(NM_203408.3):c.1918G>A (p.E640K) - FAM47A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1918G>C r.(?) p.(Glu640Gln) - likely benign g.34148478C>G - FAM47A(NM_203408.3):c.1918G>C (p.E640Q) - FAM47A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1955C>T r.(?) p.(Ser652Leu) - likely benign g.34148441G>A g.34130324G>A FAM47A(NM_203408.3):c.1955C>T (p.S652L) - FAM47A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1979T>G r.(?) p.(Leu660Arg) - VUS g.34148417A>C g.34130300A>C FAM47A(NM_203408.3):c.1979T>G (p.L660R) - FAM47A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2065C>G r.(?) p.(Gln689Glu) - likely benign g.34148331G>C g.34130214G>C FAM47A(NM_203408.3):c.2065C>G (p.Q689E) - FAM47A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2257A>G r.(?) p.(Ile753Val) - likely benign g.34148139T>C g.34130022T>C FAM47A(NM_203408.3):c.2257A>G (p.I753V) - FAM47A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.2353G>A r.(?) p.(Val785Ile) - likely benign, VUS g.34148043C>T g.34129926C>T FAM47A(NM_203408.3):c.2353G>A (p.V785I, p.(Val785Ile)) - FAM47A_000001 VKGL data sharing initiative Nederland Journal: Reynhout 2019 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam
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