Full data view for gene SERAC1

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

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? - c.-4821557_*1877933del - r.0? p.0? Unknown g.156654465_163410727del - - - SNX9_000003 - - - - Unknown - - - 0 - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
-?/. - c.-2+10G>A likely benign r.(=) p.(=) Unknown g.158589162C>T - SERAC1(NM_032861.3):c.-2+10G>A - GTF2H5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1-10A>G likely benign r.(=) p.(=) Unknown g.158579406T>C - SERAC1(NM_032861.3):c.-1-10A>G - SERAC1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29G>C VUS r.(?) p.(Cys10Ser) Unknown g.158579367C>G - SERAC1(NM_032861.3):c.29G>C (p.C10S) - SERAC1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62C>T likely benign r.(?) p.(Pro21Leu) Unknown g.158579334G>A - SERAC1(NM_032861.3):c.62C>T (p.(Pro21Leu)) - SERAC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.62C>T benign r.(?) p.(Pro21Leu) Unknown g.158579334G>A - SERAC1(NM_032861.3):c.62C>T (p.(Pro21Leu)) - SERAC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89T>C likely benign r.(?) p.(Ile30Thr) Unknown g.158579307A>G - SERAC1(NM_032861.3):c.89T>C (p.(Ile30Thr)) - SERAC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.101_103del VUS r.(?) p.(Ile34del) Unknown g.158576376_158576378del - SERAC1(NM_032861.3):c.101_103del (p.(Ile34del)) - SERAC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.128+8_128+10del VUS r.(=) p.(=) Unknown g.158576340_158576342del - SERAC1(NM_032861.3):c.128+8_128+10del (p.(=)) - SERAC1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139T>A VUS r.(?) p.(Phe47Ile) Unknown g.158571611A>T - SERAC1(NM_032861.3):c.139T>A (p.F47I) - SERAC1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.202C>T pathogenic r.(?) p.(Arg68*) Unknown g.158571548G>A - SERAC1(NM_032861.3):c.202C>T (p.Arg68*) - SERAC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.249C>T benign r.(?) p.(=) Unknown g.158571501G>A - SERAC1(NM_032861.3):c.249C>T (p.D83=) - SERAC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.249C>T benign r.(?) p.(=) Unknown g.158571501G>A - SERAC1(NM_032861.3):c.249C>T (p.D83=) - SERAC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.341G>A likely benign r.(?) p.(Arg114Gln) Unknown g.158569911C>T - SERAC1(NM_032861.3):c.341G>A (p.R114Q) - SERAC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.355+11A>G benign r.(=) p.(=) Unknown g.158569886T>C - SERAC1(NM_032861.3):c.355+11A>G (p.?) - SERAC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.355+11A>G benign r.(=) p.(=) Unknown g.158569886T>C - SERAC1(NM_032861.3):c.355+11A>G (p.?) - SERAC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.364A>G VUS r.(?) p.(Ser122Gly) Unknown g.158567937T>C - SERAC1(NM_032861.3):c.364A>G (p.S122G) - SERAC1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.438del ACMG: 5 r.(?) p.(Thr147Argfs*22) Both (homozygous) g.158567863del g.158146831del - - SERAC1_000001 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MEGDEL - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. 6 c.442C>T - r.(?) p.(Arg148*) Both (homozygous) g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MEGDEL 22683713-Pat3 PubMed: Wortmann 2012, Journal: Wortmann 2012 3-generation family, 3 affects (2F, M), niece of Pat6/7 F yes Turkey - >15y 0 - - 3 Johan den Dunnen
+/. 6 c.442C>T - r.(?) p.(Arg148*) Both (homozygous) g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat6 PubMed: Wortmann 2012, Journal: Wortmann 2012 sister of Pat7, niece of Pat3 F yes Turkey - >7y 0 - - 1 Johan den Dunnen
+/. 6 c.442C>T - r.(?) p.(Arg148*) Both (homozygous) g.158567859G>A g.158146827G>A - - SERAC1_000013 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat7 PubMed: Wortmann 2012, Journal: Wortmann 2012 brother of Pat6 M yes Turkey - 7d 0 - - 1 Johan den Dunnen
?/. - c.457C>T VUS r.(?) p.(Arg153Trp) Unknown g.158567844G>A - SERAC1(NM_032861.3):c.457C>T (p.R153W) - SERAC1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.466_467insGCGGGAAATGT - r.(?) p.(Ser156Cysfs*17) Parent #1 g.158567834_158567835insACATTTCCCGC g.158146802_158146803insACATTTCCCGC - - SERAC1_000014 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat15 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 3y 0 - - 1 Johan den Dunnen
+/. - c.547C>T pathogenic r.(?) p.(Arg183*) Unknown g.158565393G>A - SERAC1(NM_032861.3):c.547C>T (p.Arg183*) - SERAC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.576delT - r.(?) p.(Leu193Serfs*9) Parent #1 g.158565364delA g.158144332delA - - SERAC1_000015 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat14 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 15y 0 - - 1 Johan den Dunnen
?/. - c.583C>T VUS r.(?) p.(Pro195Ser) Unknown g.158565357G>A - SERAC1(NM_032861.3):c.583C>T (p.P195S) - SERAC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.916C>T pathogenic r.(?) p.(Arg306*) Unknown g.158549239G>A - SERAC1(NM_032861.3):c.916C>T (p.Arg306*) - SERAC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.917G>A likely benign r.(?) p.(Arg306Gln) Unknown g.158549238C>T - SERAC1(NM_032861.3):c.917G>A (p.R306Q) - SERAC1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1016-11C>T benign r.(=) p.(=) Unknown g.158541618G>A - SERAC1(NM_032861.3):c.1016-11C>T - SERAC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1084A>T likely benign r.(?) p.(Ile362Phe) Unknown g.158541539T>A - SERAC1(NM_032861.3):c.1084A>T (p.I362F) - SERAC1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1112_1113del pathogenic r.(?) p.(Val371Alafs*22) Unknown g.158541512_158541513del - SERAC1(NM_032861.3):c.1112_1113delTG (p.V371Afs*22) - SERAC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 12 c.1167_1170del - r.1167_1308del p.Ser389Argfs*4 Both (homozygous) g.158540199_158540202del g.158119167_158119170del 1167_1170delTCAG - SERAC1_000002 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEGDEL 22683713-Pat1 PubMed: Wortmann 2012, Journal: Wortmann 2012 - F yes Turkey - 10y 0 - - 1 Johan den Dunnen
+/. 12 c.1202G>A - r.(?) p.(Gly401Asp) Parent #1 g.158540167C>T g.158119135C>T - - SERAC1_000003 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEGDEL 22683713-Pat13 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 9y 0 - - 1 Johan den Dunnen
+/. 12 c.1211G>A - r.(?) p.(Gly404Glu) Both (homozygous) g.158540158C>T g.158119126C>T - - SERAC1_000004 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat8 PubMed: Wortmann 2012, Journal: Wortmann 2012 - M yes Afghanistan - 9y 0 - - 1 Johan den Dunnen
?/. - c.1295C>T VUS r.(?) p.(Thr432Met) Unknown g.158540074G>A - SERAC1(NM_032861.3):c.1295C>T (p.(Thr432Met)) - SERAC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.1309_1313dup - r.(?) p.(Trp438*) Parent #1 g.158538849_158538853dup g.158117817_158117821dup 1309_1313dupACATG - SERAC1_000005 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat10 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >5y 0 - - 1 Johan den Dunnen
-?/. - c.1396A>T likely benign r.(?) p.(Met466Leu) Unknown g.158538766T>A - SERAC1(NM_032861.3):c.1396A>T (p.(Met466Leu)) - SERAC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13i c.1403+1G>C - r.1309_1403del p.Thr437Lysfs*12 Both (homozygous) g.158538758C>G g.158117726C>G - - SERAC1_000006 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MEGDEL 22683713-Pat5 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - >11y 0 - - 1 Johan den Dunnen
+/. 13i c.1403+1G>C - r.1309_1403del p.Thr437Lysfs*12 Both (homozygous) g.158538758C>G g.158117726C>G - - SERAC1_000006 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEGDEL 22683713-Pat12 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - >10y 0 - - 1 Johan den Dunnen
+/. 14 c.1435_1437del - r.(?) p.(Leu479del) Both (homozygous) g.158537281_158537283del g.158116249_158116251del 1435_1437delCTT - SERAC1_000007 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat4 PubMed: Wortmann 2012, Journal: Wortmann 2012 - F yes Turkey - >15y 0 - - 1 Johan den Dunnen
+/. - c.1488dup - r.(?) p.(His497Thrfs*2) Unknown g.158537230dup g.158116198dup - - SERAC1_000016 - - - - Unknown - - - 0 - DNA SEQ - - - - - - M - (Germany) - - 0 - - 1 IMGAG
+/. 14 c.1493G>C - r.(?) p.(Ser498Thr) Parent #2 g.158537225C>G g.158116193C>G - - SERAC1_000008 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat14 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 15y 0 - - 1 Johan den Dunnen
+/. 14 c.1493G>C - r.(?) p.(Ser498Thr) Parent #2 g.158537225C>G g.158116193C>G - - SERAC1_000008 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat15 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 3y 0 - - 1 Johan den Dunnen
?/. - c.1501+3A>C VUS r.spl? p.? Unknown g.158537214T>G - SERAC1(NM_032861.3):c.1501+3A>C (p.?) - SERAC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 15 c.1598_1599dup - r.(?) p.(His534Leufs*53) Both (homozygous) g.158535906_158535907dup g.158114874_158114875dup 1598_1599dupATAGTGTCCCTCATCAT - SERAC1_000009 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat9 PubMed: Wortmann 2012, Journal: Wortmann 2012 - M no Turkey - >4y 0 - - 1 Johan den Dunnen
+/. 15 c.1627_1628dup - r.(?) p.(Val544Leufs*43) Both (homozygous) g.158535877_158535878dup g.158114845_158114846dup 1627_1628dupTC - SERAC1_000010 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat2 PubMed: Wortmann 2012, Journal: Wortmann 2012 - F no Netherlands - 16y 0 - - 1 Johan den Dunnen
+/. - c.1628_1629dup pathogenic r.(?) p.(Val544Leufs*43) Unknown g.158535878_158535879dup - SERAC1(NM_032861.3):c.1628_1629dupCT (p.V544Lfs*43) - SERAC1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688C>G VUS r.(?) p.(Ser563Cys) Unknown g.158534621G>C - SERAC1(NM_032861.3):c.1688C>G (p.S563C) - SERAC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1765G>A VUS r.(?) p.(Glu589Lys) Unknown g.158534544C>T - SERAC1(NM_032861.3):c.1765G>A (p.(Glu589Lys)) - SERAC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1765G>A likely pathogenic r.(?) p.(Glu589Lys) Unknown g.158534544C>T - SERAC1(NM_032861.3):c.1765G>A (p.(Glu589Lys)) - SERAC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1816G>A VUS r.(?) p.(Val606Met) Unknown g.158534493C>T - SERAC1(NM_032861.3):c.1816G>A (p.V606M) - SERAC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16_16i c.1822_1828+10delinsACCAACAGG - r.? p.? Parent #1 g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat11 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >8y 0 - - 1 Johan den Dunnen
+/. 16_16i c.1822_1828+10delinsACCAACAGG - r.? p.? Parent #2 g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat10 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >5y 0 - - 1 Johan den Dunnen
+/. 16_16i c.1822_1828+10delinsACCAACAGG - r.1822_1828+10delinsACCAACAGGins1828+11_1829-1 p.? Parent #2 g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEGDEL 22683713-Pat13 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Sweden - 9y 0 - - 1 Johan den Dunnen
+/. 17 c.1924C>T - r.(?) p.(Gln642*) Parent #2 g.158532439G>A g.158111407G>A - - SERAC1_000012 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - DNA SEQ - - MEGDEL 22683713-Pat11 PubMed: Wortmann 2012, Journal: Wortmann 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Poland - >8y 0 - - 1 Johan den Dunnen
?/. - c.1933C>T VUS r.(?) p.(Arg645Cys) Unknown g.158532430G>A - SERAC1(NM_032861.3):c.1933C>T (p.(Arg645Cys)) - SERAC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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