Full data view for gene SLC35C1

Information The variants shown are described using the NM_018389.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
-?/. - c.27C>T r.(?) p.(Ser9=) Unknown - likely benign g.45827379C>T g.45805828C>T SLC35C1(NM_018389.4):c.27C>T (p.S9=) - SLC35C1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78_83dup r.(?) p.(Glu27_Ala28dup) Unknown - VUS g.45827430_45827435dup - SLC35C1(NM_018389.4):c.78_83dupAGAGGC (p.E27_A28dup) - SLC35C1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82G>A r.(?) p.(Ala28Thr) Unknown - likely benign g.45827434G>A g.45805883G>A SLC35C1(NM_018389.4):c.82G>A (p.A28T) - SLC35C1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.91G>T r.(?) p.(Glu31Ter) Parent #1 - pathogenic (recessive) g.45827443G>T g.45805892G>T - - SLC35C1_000025 - PubMed: Jones 2013, Journal: Jones 2013, PubMed: Dauber 2014, Journal: Dauber 2014 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Jones 2013, Journal: Jones 2013, PubMed: Dauber 2014, Journal: Dauber 2014 family, 2 affected sibs (2M) M - - white - - - - 1 Johan den Dunnen
+/. - c.91G>T r.(?) p.(Glu31Ter) Parent #2 - pathogenic (recessive) g.45827443G>T g.45805892G>T - - SLC35C1_000025 - PubMed: Jones 2013, Journal: Jones 2013, PubMed: Dauber 2014, Journal: Dauber 2014 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Jones 2013, Journal: Jones 2013, PubMed: Dauber 2014, Journal: Dauber 2014 family, 2 affected sibs (2M) M - - white - - - - 1 Johan den Dunnen
?/. - c.139C>T r.(?) p.(Leu47Phe) Unknown - VUS g.45827491C>T g.45805940C>T SLC35C1(NM_018389.4):c.139C>T (p.L47F) - SLC35C1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.145T>A r.(?) p.(Trp49Arg) Both (homozygous) - pathogenic (recessive) g.45827497T>A g.45805946T>A - - SLC35C1_000026 - PubMed: Cagdas 2014, Journal: Cagdas 2014 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Cagdas 2014, Journal: Cagdas 2014 family, 2 affected sibs (F, M) F;M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.177_179del r.(?) p.(Asn59del) Paternal (confirmed) - pathogenic (recessive) g.45827529_45827531del g.45805978_45805980del c.177_179delTAA - SLC35C1_000027 - PubMed: Cooper 2020, Journal: Cooper 2020 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Cooper 2020, Journal: Cooper 2020 - M - - white - - - - 1 Johan den Dunnen
+/. - c.247_249del r.(?) p.(Val83del) Maternal (confirmed) - pathogenic (recessive) g.45827599_45827601del g.45806048_45806050del 247_249delGTG - SLC35C1_000040 - PubMed: Cooper 2020, Journal: Cooper 2020 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Cooper 2020, Journal: Cooper 2020 - M - - white - - - - 1 Johan den Dunnen
-?/. - c.254C>T r.(?) p.(Thr85Met) Unknown - likely benign g.45827606C>T g.45806055C>T SLC35C1(NM_018389.4):c.254C>T (p.T85M) - SLC35C1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.267del r.(?) p.(Gly90AlafsTer38) Both (homozygous) - pathogenic (recessive) g.45827619del g.45806068del c.267delA - SLC35C1_000028 - PubMed: Grabowski 2019, Journal: Grabowski 2019 - - Germline - - - - - DNA SEQ - - GAMOS2 LAD3 PubMed: Grabowski 2019, Journal: Grabowski 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.345C>T r.(?) p.(Arg115=) Unknown - likely benign g.45827697C>T - SLC35C1(NM_018389.4):c.345C>T (p.R115=) - SLC35C1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.439C>T r.(?) p.(Arg147Cys) Unknown - pathogenic g.45827791C>T g.45806240C>T SLC35C1(NM_001145265.1):c.400C>T (p.(Arg134Cys)), SLC35C1(NM_018389.4):c.439C>T (p.R147C) - SLC35C1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439C>T r.(?) p.(Arg147Cys) Unknown - VUS g.45827791C>T - SLC35C1(NM_001145265.1):c.400C>T (p.(Arg134Cys)), SLC35C1(NM_018389.4):c.439C>T (p.R147C) - SLC35C1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.439C>T r.(?) p.(Arg147Cys) Both (homozygous) - pathogenic (recessive) g.45827791C>T g.45806240C>T - - SLC35C1_000004 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Lühn 2001, Journal: Lühn 2001 - - Germline - - - - - DNA SEQ - - GAMOS2 PatAC PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Lühn 2001, Journal: Lühn 2001 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.503_505del r.(?) p.(Phe168del) Unknown - pathogenic g.45827855_45827857del g.45806304_45806306del SLC35C1(NM_001145265.1):c.464_466del (p.(Phe155del)), SLC35C1(NM_018389.4):c.503_505delTCT (p.F168del), SLC35C1(NM_018389.5):c.503_505delTCT (p.F1...) - SLC35C1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.503_505del r.(?) p.(Phe168del) Unknown - VUS g.45827855_45827857del g.45806304_45806306del SLC35C1(NM_001145265.1):c.464_466del (p.(Phe155del)), SLC35C1(NM_018389.4):c.503_505delTCT (p.F168del), SLC35C1(NM_018389.5):c.503_505delTCT (p.F1...) - SLC35C1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.503_505del r.(?) p.(Phe168del) Unknown - pathogenic g.45827855_45827857del g.45806304_45806306del SLC35C1(NM_001145265.1):c.464_466del (p.(Phe155del)), SLC35C1(NM_018389.4):c.503_505delTCT (p.F168del), SLC35C1(NM_018389.5):c.503_505delTCT (p.F1...) - SLC35C1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Cys174=) Unknown - likely benign g.45827874C>T g.45806323C>T SLC35C1(NM_018389.4):c.522C>T (p.C174=) - SLC35C1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Cys174=) Unknown - likely benign g.45827874C>T g.45806323C>T SLC35C1(NM_018389.4):c.522C>T (p.C174=) - SLC35C1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.551G>A r.(?) p.(Gly184Asp) Unknown - likely pathogenic g.45832342G>A g.45810791G>A SLC35C1(NM_018389.5):c.551G>A (p.G184D) - SLC35C1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.588del r.(?) p.(Trp196CysfsTer35) Both (homozygous) - pathogenic (recessive) g.45832379del g.45810828del c.588delG - SLC35C1_000029 - PubMed: Hidalgo 2003, Journal: Hidalgo 2003, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Hidalgo 2003, Journal: Hidalgo 2003, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - M - Brazil - - - - - 1 Johan den Dunnen
-/. - c.597C>T r.(=) p.(=) Unknown - benign g.45832388C>T - NM_018389:c.C597T (T199T) - SLC35C1_000041 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0016 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.598G>A r.(?) p.(Val200Ile) Unknown - likely benign g.45832389G>A - SLC35C1(NM_018389.4):c.598G>A (p.V200I) - SLC35C1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.703_705del r.(703_705del) p.(Asn235del) Both (homozygous) - pathogenic (recessive) g.45832494_45832496del g.45810943_45810945del - - SLC35C1_000030 - PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - DNA SEQ - - GAMOS2 PatI PubMed: Roos 2023, Journal: Roos 2023 - M - Iran - - - - - 1 Johan den Dunnen
-/. - c.718A>G r.(?) p.(Ile240Val) Unknown - benign g.45832509A>G g.45810958A>G - - SLC35C1_000031 corrected after consultation authors PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.747C>T r.(?) p.(Leu249=) Unknown - likely benign g.45832538C>T g.45810987C>T SLC35C1(NM_018389.4):c.747C>T (p.L249=) - SLC35C1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748G>A r.(?) p.(Gly250Arg) Unknown - VUS g.45832539G>A g.45810988G>A SLC35C1(NM_018389.4):c.748G>A (p.G250R) - SLC35C1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.772T>C r.(?) p.(Phe258Leu) Unknown - benign g.45832563T>C g.45811012T>C - - SLC35C1_000032 - PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - SUMMARY record - - - - - DNA SEQ - - Healthy/Control - PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.819C>T r.(?) p.(Gly273=) Unknown - likely benign g.45832610C>T - SLC35C1(NM_018389.4):c.819C>T (p.G273=) - SLC35C1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.878C>T r.(?) p.(Pro293Leu) Parent #1 - pathogenic (recessive) g.45832669C>T g.45811118C>T - - SLC35C1_000033 - PubMed: Tahata 2022, Journal: Tahata 2022 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Tahata 2022, Journal: Tahata 2022 - M - - white - - - - 1 Johan den Dunnen
+/. - c.878C>T r.(?) p.(Pro293Leu) Parent #2 - pathogenic (recessive) g.45832669C>T g.45811118C>T - - SLC35C1_000033 - PubMed: Tahata 2022, Journal: Tahata 2022 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Tahata 2022, Journal: Tahata 2022 - M - - white - - - - 1 Johan den Dunnen
-?/. - c.879G>A r.(?) p.(Pro293=) Unknown - likely benign g.45832670G>A - SLC35C1(NM_018389.4):c.879G>A (p.P293=) - SLC35C1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.887A>G r.(?) p.(His296Arg) Both (homozygous) - pathogenic (recessive) g.45832678A>G g.45811127A>G - - SLC35C1_000034 - PubMed: Dyment 2021, Journal: Dyment 2021 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Dyment 2021, Journal: Dyment 2021 - M - Iran - - - - - 1 Johan den Dunnen
+/. - c.891T>G r.(?) p.(Asn297Lys) Parent #1 - pathogenic (recessive) g.45832682T>G g.45811131T>G - - SLC35C1_000035 - PubMed: Knapp 2020, Journal: Knapp 2020 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Knapp 2020, Journal: Knapp 2020 - F - - white - - - - 1 Johan den Dunnen
+/. - c.891T>G r.(?) p.(Asn297Lys) Parent #2 - pathogenic (recessive) g.45832682T>G g.45811131T>G - - SLC35C1_000035 - PubMed: Knapp 2020, Journal: Knapp 2020 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Knapp 2020, Journal: Knapp 2020 - F - - white - - - - 1 Johan den Dunnen
?/. - c.902C>T r.(?) p.(Thr301Met) Unknown - VUS g.45832693C>T g.45811142C>T SLC35C1(NM_018389.4):c.902C>T (p.T301M) - SLC35C1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.916G>A r.(?) p.(Ala306Thr) Unknown - likely benign g.45832707G>A - SLC35C1(NM_018389.4):c.916G>A (p.A306T) - SLC35C1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.923C>G r.(?) p.(Thr308Arg) Both (homozygous) - pathogenic (recessive) g.45832714C>G g.45811163C>G - - SLC35C1_000036 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - Germline - - - - - DNA SEQ - - GAMOS2 PatM PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - M - - Arab - - - - 1 Johan den Dunnen
+/. - c.923C>G r.(?) p.(Thr308Arg) Both (homozygous) - pathogenic (recessive) g.45832714C>G g.45811163C>G - - SLC35C1_000036 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002 - M - Israel Arab;Muslim - - - - 1 Johan den Dunnen
+/. - c.923C>G r.(?) p.(Thr308Arg) Both (homozygous) - pathogenic (recessive) g.45832714C>G g.45811163C>G - - SLC35C1_000036 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002 - F - Israel Arab;Muslim - - - - 1 Johan den Dunnen
+/. - c.923C>G r.(?) p.(Thr308Arg) Both (homozygous) - pathogenic (recessive) g.45832714C>G g.45811163C>G - - SLC35C1_000036 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Lübke 2001, Journal: Lübke 2001, PubMed: van de Vijver 2012, Journal: van de Vijver 2012, PubMed: Etzoni 2002, Journal: Etzoni 2002 - F - Israel Arab;Muslim - - - - 1 Johan den Dunnen
+/. - c.923C>G r.(?) p.(Thr308Arg) Both (homozygous) - pathogenic (recessive) g.45832714C>G g.45811163C>G - - SLC35C1_000036 - PubMed: Wolach 2019, Journal: Wolach 2019, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Wolach 2019, Journal: Wolach 2019, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - F - Israel Arab - - - - 1 Johan den Dunnen
+/. - c.942C>G r.(?) p.(Tyr314Ter) Parent #1 - pathogenic (recessive) g.45832733C>G g.45811182C>G - - SLC35C1_000037 - PubMed: Tahata 2022, Journal: Tahata 2022, PubMed: Starosta 2021, Journal: Starosta 2021, PubMed: Klee 2021, Journal: Klee 2021 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Tahata 2022, Journal: Tahata 2022, PubMed: Starosta 2021, Journal: Starosta 2021, PubMed: Klee 2021, Journal: Klee 2021 family, 2 affected sibs (2F) F - - - - - - - 1 Johan den Dunnen
+/. - c.942C>G r.(?) p.(Tyr314Ter) Parent #2 - pathogenic (recessive) g.45832733C>G g.45811182C>G - - SLC35C1_000037 - PubMed: Tahata 2022, Journal: Tahata 2022, PubMed: Starosta 2021, Journal: Starosta 2021, PubMed: Klee 2021, Journal: Klee 2021 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Tahata 2022, Journal: Tahata 2022, PubMed: Starosta 2021, Journal: Starosta 2021, PubMed: Klee 2021, Journal: Klee 2021 family, 2 affected sibs (2F) F - - - - - - - 1 Johan den Dunnen
+/. - c.969G>A r.(?) p.(Trp323Ter) Both (homozygous) - pathogenic (recessive) g.45832760G>A g.45811209G>A - - SLC35C1_000038 - PubMed: Helmus 2006, Journal: Helmus 2006, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Helmus 2006, Journal: Helmus 2006, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - F - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1010A>G r.(?) p.(Tyr337Cys) Both (homozygous) - pathogenic (recessive) g.45832801A>G g.45811250A>G - - SLC35C1_000039 - PubMed: Gazit 2010, Journal: Gazit 2010, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - - Germline - - - - - DNA SEQ - - GAMOS2 - PubMed: Gazit 2010, Journal: Gazit 2010, PubMed: van de Vijver 2012, Journal: van de Vijver 2012 - M - Israel Arab - - - - 1 Johan den Dunnen
-?/. - c.1047G>A r.(?) p.(Pro349=) Unknown - likely benign g.45832838G>A - SLC35C1(NM_018389.4):c.1047G>A (p.P349=) - SLC35C1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1047G>A r.(?) p.(Pro349=) Unknown - benign g.45832838G>A g.45811287G>A - - SLC35C1_000023 - PubMed: Roos 2023, Journal: Roos 2023 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1054C>T r.(?) p.(Pro352Ser) Unknown - likely benign g.45832845C>T g.45811294C>T SLC35C1(NM_018389.4):c.1054C>T (p.P352S) - SLC35C1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1054C>T r.(?) p.(Pro352Ser) Unknown - likely benign g.45832845C>T - SLC35C1(NM_018389.4):c.1054C>T (p.P352S) - SLC35C1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1055C>A r.(?) p.(Pro352His) Unknown - VUS g.45832846C>A g.45811295C>A SLC35C1(NM_018389.4):c.1055C>A (p.P352H) - SLC35C1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1090G>A r.(?) p.(Val364Met) Unknown - VUS g.45832881G>A - SLC35C1(NM_018389.5):c.1090G>A (p.(Val364Met)) - SLC35C1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*49G>A r.(=) p.(=) Both (homozygous) - VUS g.45832935G>A g.45811384G>A - - SLC35C1_000001 - PubMed: Almomani 2011 - rs1139266 Germline - - - - - DNA SEQ-NG, SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.*1580C>T r.(=) p.(=) Parent #1 - likely benign g.45834466C>T g.45812915C>T - - SLC35C1_000017 134 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10838518 Germline - 134/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 134 Mohammed Faruq
-?/. - c.*1580C>T r.(=) p.(=) Both (homozygous) - likely benign g.45834466C>T g.45812915C>T - - SLC35C1_000017 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10838518 Germline - 6/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
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