Unique variants in gene SERAC1

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

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-4821557_*1877933del - r.0? p.0? g.156654465_163410727del - - - SNX9_000003 - - - - Unknown - - - - - Gijs Santen
-?/. 1 - c.62C>T likely benign r.(?) p.(Pro21Leu) g.158579334G>A - SERAC1:NM_032861.3:c.62C>T - SERAC1_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.89T>C likely benign r.(?) p.(Ile30Thr) g.158579307A>G - SERAC1:NM_032861.3:c.89T>C - SERAC1_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.92-14_92-10del likely pathogenic r.(=) p.(=) g.158576393_158576397del - SERAC1:NM_032861.3:c.92-14_92-10del - SERAC1_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.101_103del VUS r.(?) p.(Ile34del) g.158576372_158576374del - SERAC1:NM_032861.3:c.101_103del - SERAC1_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.202C>T pathogenic r.(?) p.(Arg68*) g.158571548G>A - SERAC1:NM_032861.3:c.202C>T (Arg68*) - SERAC1_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.249C>T benign r.(=) p.(=) g.158571501G>A - SERAC1:NM_032861.3:c.249C>T (=), SERAC1:c.249C>T (=) - SERAC1_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.341G>A likely benign r.(?) p.(Arg114Gln) g.158569911C>T - SERAC1:c.341G>A (R114Q) - SERAC1_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.355+11A>G benign r.(=) p.(=) g.158569886T>C - SERAC1:c.355+11A>G, SERAC1:NM_032861.3:c.355+11A>G (?) - SERAC1_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 - c.438del ACMG: 5 r.(?) p.(Thr147Argfs*22) g.158567863del g.158146831del - - SERAC1_000001 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
+/. 3 6 c.442C>T - r.(?) p.(Arg148*) g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.466_467insGCGGGAAATGT - r.(?) p.(Ser156Cysfs*17) g.158567834_158567835insACATTTCCCGC g.158146802_158146803insACATTTCCCGC - - SERAC1_000014 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.547C>T pathogenic r.(?) p.(Arg183*) g.158565393G>A - SERAC1:NM_032861.3:c.547C>T (Arg183*) - SERAC1_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 7 c.576delT - r.(?) p.(Leu193Serfs*9) g.158565364delA g.158144332delA - - SERAC1_000015 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.583C>T VUS r.(?) p.(Pro195Ser) g.158565357G>A - SERAC1:c.583C>T (P195S) - SERAC1_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.916C>T pathogenic r.(?) p.(Arg306*) g.158549239G>A - SERAC1:NM_032861.3:c.916C>T (Arg306*) - SERAC1_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1016-11C>T benign r.(=) p.(=) g.158541618G>A - SERAC1:c.1016-11C>T - SERAC1_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1110_1111del pathogenic r.(?) p.(Val371Alafs*22) g.158541512_158541513del - SERAC1:c.1112_1113delTG (V371Afs*22) - SERAC1_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 12 c.1167_1170del - r.1167_1308del p.Ser389Argfs*4 g.158540199_158540202del g.158119167_158119170del 1167_1170delTCAG - SERAC1_000002 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 12 c.1202G>A - r.(?) p.(Gly401Asp) g.158540167C>T g.158119135C>T - - SERAC1_000003 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 12 c.1211G>A - r.(?) p.(Gly404Glu) g.158540158C>T g.158119126C>T - - SERAC1_000004 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1295C>T likely benign r.(?) p.(Thr432Met) g.158540074G>A - SERAC1:NM_032861.3:c.1295C>T - SERAC1_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 13 c.1309_1313dup - r.(?) p.(Trp438*) g.158538849_158538853dup g.158117817_158117821dup 1309_1313dupACATG - SERAC1_000005 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1396A>T likely benign r.(?) p.(Met466Leu) g.158538766T>A - SERAC1:NM_032861.3:c.1396A>T - SERAC1_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 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 - - - - - Johan den Dunnen
+/. 1 14 c.1435_1437del - r.(?) p.(Leu479del) g.158537281_158537283del g.158116249_158116251del 1435_1437delCTT - SERAC1_000007 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1488dup - r.(?) p.(His497Thrfs*2) g.158537230dup g.158116198dup - - SERAC1_000016 - - - - Unknown - - - - - IMGAG
+/. 2 14 c.1493G>C - r.(?) p.(Ser498Thr) g.158537225C>G g.158116193C>G - - SERAC1_000008 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1501+3A>C likely benign r.spl? p.? g.158537214T>G - SERAC1:NM_032861.3:c.1501+3A>C - SERAC1_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 15 c.1598_1599dup - r.(?) p.(His534Leufs*53) g.158535906_158535907dup g.158114874_158114875dup 1598_1599dupATAGTGTCCCTCATCAT - SERAC1_000009 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 15 c.1627_1628dup - r.(?) p.(Val544Leufs*43) g.158535877_158535878dup g.158114845_158114846dup 1627_1628dupTC - SERAC1_000010 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1630_1631insCT pathogenic r.(?) p.(Val544Alafs*43) g.158535874_158535875insAG - SERAC1:c.1628_1629dupCT (V544Lfs*43) - SERAC1_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1765G>A VUS r.(?) p.(Glu589Lys) g.158534544C>T - SERAC1:NM_032861.3:c.1765G>A - SERAC1_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1816G>A VUS r.(?) p.(Val606Met) g.158534493C>T - SERAC1:c.1816G>A (V606M) - SERAC1_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 4 16_16i c.1822_1828+10delinsACCAACAGG pathogenic r.?, r.1822_1828+10delinsACCAACAGGins1828+11_1829-1 p.? g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG, 1 more item - SERAC1_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 17 c.1924C>T - r.(?) p.(Gln642*) g.158532439G>A g.158111407G>A - - SERAC1_000012 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1933C>T likely benign r.(?) p.(Arg645Cys) g.158532430G>A - SERAC1:NM_032861.3:c.1933C>T - SERAC1_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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