All variants in the FAM47C gene

Information The variants shown are described using the NM_001013736.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.111C>G r.(?) p.(Arg37=) - likely benign g.37026594C>G g.37008521C>G FAM47C(NM_001013736.2):c.111C>G (p.R37=) - FAM47C_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.353T>A r.(?) p.(Val118Glu) - VUS g.37026836T>A g.37008763T>A FAM47C(NM_001013736.2):c.353T>A (p.V118E) - FAM47C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.487G>A r.(?) p.(Gly163Ser) - VUS g.37026970G>A g.37008897G>A FAM47C(NM_001013736.2):c.487G>A (p.(Gly163Ser)) - FAM47C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 1 c.524C>A r.(?) p.(Pro175His) - VUS g.37027007C>A g.37008934C>A P175H - FAM47C_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.541T>C r.(?) p.(Tyr181His) - likely benign g.37027024T>C g.37008951T>C FAM47C(NM_001013736.2):c.541T>C (p.Y181H) - FAM47C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. 1 c.552G>A r.(?) p.(=) - likely benign g.37027035G>A g.37008962G>A G184G - FAM47C_000034 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.568C>T r.(?) p.(Pro190Ser) - likely benign g.37027051C>T g.37008978C>T FAM47C(NM_001013736.2):c.568C>T (p.P190S) - FAM47C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.634C>T r.(?) p.(Pro212Ser) - VUS g.37027117C>T g.37009044C>T FAM47C(NM_001013736.2):c.634C>T (p.(Pro212Ser)) - FAM47C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.653G>A r.(?) p.(Gly218Glu) - VUS g.37027136G>A g.37009063G>A FAM47C(NM_001013736.2):c.653G>A (p.(Gly218Glu)) - FAM47C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.736C>T r.(?) p.(Leu246Phe) - likely benign g.37027219C>T g.37009146C>T FAM47C(NM_001013736.2):c.736C>T (p.(Leu246Phe)) - FAM47C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.999G>C r.(?) p.(Glu333Asp) - VUS g.37027482G>C g.37009409G>C FAM47C(NM_001013736.2):c.999G>C (p.(Glu333Asp)) - FAM47C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1085G>A r.(?) p.(Arg362His) - likely benign g.37027568G>A g.37009495G>A FAM47C(NM_001013736.2):c.1085G>A (p.R362H) - FAM47C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1118C>T r.(?) p.(Ala373Val) - VUS g.37027601C>T g.37009528C>T FAM47C(NM_001013736.2):c.1118C>T (p.A373V) - FAM47C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1147C>T r.(?) p.(Pro383Ser) - likely benign g.37027630C>T g.37009557C>T FAM47C(NM_001013736.2):c.1147C>T (p.P383S) - FAM47C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1157G>A r.(?) p.(Arg386His) - VUS g.37027640G>A g.37009567G>A FAM47C(NM_001013736.2):c.1157G>A (p.R386H, p.(Arg386His)) - FAM47C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1157G>A r.(?) p.(Arg386His) - likely benign g.37027640G>A g.37009567G>A FAM47C(NM_001013736.2):c.1157G>A (p.R386H, p.(Arg386His)) - FAM47C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1274A>G r.(?) p.(His425Arg) - VUS g.37027757A>G g.37009684A>G FAM47C(NM_001013736.2):c.1274A>G (p.(His425Arg)) - FAM47C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1327C>A r.(?) p.(Pro443Thr) - VUS g.37027810C>A - FAM47C(NM_001013736.2):c.1327C>A (p.P443T) - FAM47C_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1351C>T r.(?) p.(Arg451Cys) - likely benign g.37027834C>T g.37009761C>T FAM47C(NM_001013736.2):c.1351C>T (p.(Arg451Cys)) - FAM47C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 1 c.1406C>G r.(?) p.(Thr469Ser) - likely benign g.37027889C>G g.37009816C>G - - FAM47C_000005 - PubMed: Harel 2016, Journal: Harel 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1423T>C r.(?) p.(Cys475Arg) - likely benign g.37027906T>C - FAM47C(NM_001013736.2):c.1423T>C (p.C475R) - FAM47C_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1516C>G r.(?) p.(Arg506Gly) - VUS g.37027999C>G g.37009926C>G FAM47C(NM_001013736.2):c.1516C>G (p.R506G) - FAM47C_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1531C>T r.(?) p.(Arg511Cys) - likely benign g.37028014C>T g.37009941C>T FAM47C(NM_001013736.2):c.1531C>T (p.R511C) - FAM47C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1539G>C r.(?) p.(Glu513Asp) - likely benign g.37028022G>C - FAM47C(NM_001013736.2):c.1539G>C (p.E513D) - FAM47C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.1644A>G r.(?) p.(=) - VUS g.37028127A>G g.37010054A>G - - FAM47C_000001 - - - - Germline - - - - - Yu Sun
?/. 1 c.1644A>G r.(?) p.(=) - VUS g.37028127A>G g.37010054A>G - - FAM47C_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1697G>A r.(?) p.(Arg566Gln) - likely benign g.37028180G>A g.37010107G>A FAM47C(NM_001013736.2):c.1697G>A (p.R566Q) - FAM47C_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1726G>A r.(?) p.(Asp576Asn) - likely benign g.37028209G>A g.37010136G>A FAM47C(NM_001013736.2):c.1726G>A (p.(Asp576Asn)) - FAM47C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1840C>G r.(?) p.(Arg614Gly) - likely benign g.37028323C>G g.37010250C>G FAM47C(NM_001013736.2):c.1840C>G (p.(Arg614Gly)) - FAM47C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1856G>C r.(?) p.(Arg619Pro) - likely benign g.37028339G>C g.37010266G>C FAM47C(NM_001013736.2):c.1856G>C (p.R619P) - FAM47C_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1869_1904dup r.(?) p.(Glu624_Pro635dup) - VUS g.37028352_37028387dup g.37010279_37010314dup FAM47C(NM_001013736.2):c.1848_1849insCATCTCCGCCCAGAGCCTCCTGAGACTGGAGTGTCC (p.(Ser616_His617insHisLeuArgProGluProProGluThrGlyValSer)) - FAM47C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1960C>T r.(?) p.(Leu654Phe) - VUS g.37028443C>T g.37010370C>T FAM47C(NM_001013736.2):c.1960C>T (p.(Leu654Phe)) - FAM47C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2140C>A r.(?) p.(Leu714Ile) - likely benign g.37028623C>A g.37010550C>A FAM47C(NM_001013736.2):c.2140C>A (p.(Leu714Ile)) - FAM47C_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2146G>C r.(?) p.(Ala716Pro) - likely benign g.37028629G>C g.37010556G>C FAM47C(NM_001013736.2):c.2146G>C (p.(Ala716Pro)) - FAM47C_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2414A>G r.(?) p.(Lys805Arg) - VUS g.37028897A>G g.37010824A>G FAM47C(NM_001013736.2):c.2414A>G (p.K805R) - FAM47C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2648A>G r.(?) p.(Gln883Arg) - VUS g.37029131A>G g.37011058A>G FAM47C(NM_001013736.2):c.2648A>G (p.Q883R) - FAM47C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2716A>G r.(?) p.(Met906Val) - VUS g.37029199A>G g.37011126A>G FAM47C(NM_001013736.2):c.2716A>G (p.(Met906Val)) - FAM47C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 1 c.2771A>C r.(?) p.(Asn924Thr) - VUS g.37029254A>C g.37011181A>C - - FAM47C_000004 - - - - Germline - - - - - Yu Sun
?/. 1 c.2771A>C r.(?) p.(Asn924Thr) - VUS g.37029254A>C g.37011181A>C - - FAM47C_000004 - - - - Germline - - - - - Yu Sun
?/. 1 c.2771A>C r.(?) p.(Asn924Thr) - VUS g.37029254A>C g.37011181A>C N924T - FAM47C_000004 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. - c.2879C>A r.(?) p.(Pro960His) - VUS g.37029362C>A g.37011289C>A FAM47C(NM_001013736.2):c.2879C>A (p.P960H) - FAM47C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2934A>G r.(?) p.(Gly978=) - likely benign g.37029417A>G - FAM47C(NM_001013736.2):c.2934A>G (p.G978=) - FAM47C_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.2942C>T r.(?) p.(Ala981Val) - VUS g.37029425C>T g.37011352C>T A981V - FAM47C_000035 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-/. - c.2942C>T r.(?) p.(Ala981Val) - benign g.37029425C>T g.37011352C>T FAM47C(NM_001013736.2):c.2942C>T (p.A981V) - FAM47C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2967G>C r.(?) p.(Lys989Asn) - VUS g.37029450G>C g.37011377G>C FAM47C(NM_001013736.2):c.2967G>C (p.K989N) - FAM47C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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