All transcript variants in gene SERAC1

Information The variants shown are described using the NM_032861.3 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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.-4821557_*1877933del r.0? p.0? - VUS g.156654465_163410727del - - - SNX9_000003 - - - - Unknown - - - 0 - Gijs Santen
-?/. - c.-2+10G>A r.(=) p.(=) - likely benign g.158589162C>T g.158168130C>T SERAC1(NM_032861.3):c.-2+10G>A - GTF2H5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-1-10A>G r.(=) p.(=) - likely benign g.158579406T>C g.158158374T>C SERAC1(NM_032861.3):c.-1-10A>G - SERAC1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1A>T r.(?) p.(=) - VUS g.158579396T>A g.158158364T>A SERAC1(NM_032861.3):c.-1A>T - SERAC1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.22G>A r.(?) p.(Val8Ile) - likely benign g.158579374C>T g.158158342C>T SERAC1(NM_032861.3):c.22G>A (p.V8I) - SERAC1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.29G>C r.(?) p.(Cys10Ser) - VUS g.158579367C>G g.158158335C>G SERAC1(NM_032861.3):c.29G>C (p.C10S) - SERAC1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.62C>T r.(?) p.(Pro21Leu) - benign g.158579334G>A g.158158302G>A SERAC1(NM_032861.3):c.62C>T (p.P21L) - SERAC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.101_103del r.(?) p.(Ile34del) - VUS g.158576376_158576378del g.158155344_158155346del SERAC1(NM_032861.3):c.101_103del (p.(Ile34del)) - SERAC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.139T>A r.(?) p.(Phe47Ile) - VUS g.158571611A>T g.158150579A>T SERAC1(NM_032861.3):c.139T>A (p.F47I) - SERAC1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.202C>T r.(?) p.(Arg68Ter) - pathogenic g.158571548G>A g.158150516G>A - - SERAC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.249C>T r.(?) p.(Asp83=) - benign g.158571501G>A g.158150469G>A SERAC1(NM_032861.3):c.249C>T (p.D83=) - SERAC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.249C>T r.(?) p.(Asp83=) - benign g.158571501G>A g.158150469G>A SERAC1(NM_032861.3):c.249C>T (p.D83=) - SERAC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.341G>A r.(?) p.(Arg114Gln) - likely benign g.158569911C>T g.158148879C>T SERAC1(NM_032861.3):c.341G>A (p.R114Q) - SERAC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.355+11A>G r.(=) p.(=) - benign g.158569886T>C g.158148854T>C SERAC1(NM_032861.3):c.355+11A>G - SERAC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.355+11A>G r.(=) p.(=) - benign g.158569886T>C g.158148854T>C SERAC1(NM_032861.3):c.355+11A>G - SERAC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.364A>G r.(?) p.(Ser122Gly) - VUS g.158567937T>C g.158146905T>C SERAC1(NM_032861.3):c.364A>G (p.S122G) - SERAC1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.438del r.(?) p.(Thr147Argfs*22) ACMG pathogenic g.158567864del g.158146832del - - SERAC1_000001 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
+/. 6 c.442C>T r.(?) p.(Arg148*) - - g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.442C>T r.(?) p.(Arg148*) - - g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.442C>T r.(?) p.(Arg148*) - - g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.456_466dup r.(?) p.(Ser156Cysfs*17) - - g.158567838_158567848dup g.158146806_158146816dup - - SERAC1_000014 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.457C>T r.(?) p.(Arg153Trp) - VUS g.158567844G>A g.158146812G>A SERAC1(NM_032861.3):c.457C>T (p.R153W) - SERAC1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.547C>T r.(?) p.(Arg183Ter) - pathogenic g.158565393G>A g.158144361G>A - - SERAC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.566T>G r.(?) p.(Leu189Arg) - VUS g.158565374A>C g.158144342A>C SERAC1(NM_032861.3):c.566T>G (p.L189R) - SERAC1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7 c.576del r.(?) p.(Leu193Serfs*9) - - g.158565369del g.158144337del - - SERAC1_000015 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.583C>T r.(?) p.(Pro195Ser) - VUS g.158565357G>A g.158144325G>A SERAC1(NM_032861.3):c.583C>T (p.P195S) - SERAC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.610-3C>A r.spl? p.? - VUS g.158564219G>T g.158143187G>T SERAC1(NM_032861.3):c.610-3C>A - SERAC1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.916C>T r.(?) p.(Arg306Ter) - pathogenic g.158549239G>A g.158128207G>A - - SERAC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.917G>A r.(?) p.(Arg306Gln) - likely benign g.158549238C>T g.158128206C>T SERAC1(NM_032861.3):c.917G>A (p.R306Q) - SERAC1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.976G>T r.(?) p.(Ala326Ser) - VUS g.158549179C>A g.158128147C>A SERAC1(NM_032861.3):c.976G>T (p.A326S) - SERAC1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1016-11C>T r.(=) p.(=) - benign g.158541618G>A g.158120586G>A SERAC1(NM_032861.3):c.1016-11C>T - SERAC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1084A>T r.(?) p.(Ile362Phe) - likely benign g.158541539T>A g.158120507T>A SERAC1(NM_032861.3):c.1084A>T (p.I362F) - SERAC1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1112_1113del r.(?) p.(Val371AlafsTer22) - pathogenic g.158541512_158541513del g.158120480_158120481del SERAC1(NM_032861.3):c.1112_1113delTG (p.V371Afs*22) - SERAC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 12 c.1167_1170del r.1167_1308del p.Ser389Argfs*4 - - g.158540201_158540204del g.158119169_158119172del 1167_1170delTCAG - SERAC1_000002 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.1202G>A r.(?) p.(Gly401Asp) - - g.158540167C>T g.158119135C>T - - SERAC1_000003 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.1211G>A r.(?) p.(Gly404Glu) - - g.158540158C>T g.158119126C>T - - SERAC1_000004 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1295C>T r.(?) p.(Thr432Met) - VUS g.158540074G>A g.158119042G>A SERAC1(NM_032861.3):c.1295C>T (p.(Thr432Met)) - SERAC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 13 c.1309_1313dup r.(?) p.(Trp438*) - - g.158538850_158538854dup g.158117818_158117822dup 1309_1313dupACATG - SERAC1_000005 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 13i c.1403+1G>C r.1309_1403del p.Thr437Lysfs*12 - - g.158538758C>G g.158117726C>G - - SERAC1_000006 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 13i c.1403+1G>C r.1309_1403del p.Thr437Lysfs*12 - - g.158538758C>G g.158117726C>G - - SERAC1_000006 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 14 c.1435_1437del r.(?) p.(Leu479del) - - g.158537284_158537286del g.158116252_158116254del 1435_1437delCTT - SERAC1_000007 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1488dup r.(?) p.(His497Thrfs*2) - pathogenic g.158537230dup g.158116198dup - - SERAC1_000016 - - - - Unknown - - - 0 - IMGAG
+/. 14 c.1493G>C r.(?) p.(Ser498Thr) - - g.158537225C>G g.158116193C>G - - SERAC1_000008 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 14 c.1493G>C r.(?) p.(Ser498Thr) - - g.158537225C>G g.158116193C>G - - SERAC1_000008 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1501+3A>C r.spl? p.? - VUS g.158537214T>G g.158116182T>G SERAC1(NM_032861.3):c.1501+3A>C (p.?) - SERAC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 15 c.1599_1600dup r.(?) p.(His534Leufs*53) - - g.158535906_158535907dup g.158114874_158114875dup 1598_1599dupATAGTGTCCCTCATCAT - SERAC1_000009 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 15 c.1628_1629dup r.(?) p.(Val544Leufs*43) - - g.158535878_158535879dup g.158114846_158114847dup 1627_1628dupTC - SERAC1_000010 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1628_1629dup r.(?) p.(Val544LeufsTer43) - pathogenic g.158535878_158535879dup g.158114846_158114847dup SERAC1(NM_032861.3):c.1628_1629dupCT (p.V544Lfs*43) - SERAC1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1659G>A r.(?) p.(Ser553=) - likely benign g.158535846C>T g.158114814C>T SERAC1(NM_032861.3):c.1659G>A (p.S553=) - SERAC1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1688C>G r.(?) p.(Ser563Cys) - VUS g.158534621G>C g.158113589G>C SERAC1(NM_032861.3):c.1688C>G (p.S563C) - SERAC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1765G>A r.(?) p.(Glu589Lys) - VUS g.158534544C>T g.158113512C>T SERAC1(NM_032861.3):c.1765G>A (p.(Glu589Lys)) - SERAC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.1765G>A r.(?) p.(Glu589Lys) - likely pathogenic g.158534544C>T g.158113512C>T SERAC1(NM_032861.3):c.1765G>A (p.(Glu589Lys)) - SERAC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1816G>A r.(?) p.(Val606Met) - VUS g.158534493C>T g.158113461C>T SERAC1(NM_032861.3):c.1816G>A (p.V606M) - SERAC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1822_1828+10delinsACCAA r.spl? p.? - - g.158534471_158534487delinsTTGGT g.158113439_158113455delinsTTGGT - - SERAC1_000052 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - 0 - Johan den Dunnen
+/. 16_16i c.1822_1828+10delinsACCAACAGG r.spl? p.? - - g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 16_16i c.1822_1828+10delinsACCAACAGG r.spl? p.? - - g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 16_16i c.1822_1828+10delinsACCAACAGG r.1822_1828+10delinsACCAACAGGins1828+11_1829-1 p.? - - g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 17 c.1924C>T r.(?) p.(Gln642*) - - g.158532439G>A g.158111407G>A - - SERAC1_000012 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1933C>T r.(?) p.(Arg645Cys) - VUS g.158532430G>A g.158111398G>A SERAC1(NM_032861.3):c.1933C>T (p.(Arg645Cys)) - SERAC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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