Full data view for gene SLC19A3

Information The variants shown are described using the NM_025243.3 transcript reference sequence.

150 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-90C>T r.(?) p.(=) Unknown - benign g.228582746G>A - - - SLC19A3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2-10A>G r.(=) p.(=) Unknown - benign g.228567046T>C g.227702330T>C SLC19A3(NM_025243.4):c.-2-10A>G - SLC19A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.4delG r.(?) p.(Asp2IlefsTer7) Both (homozygous) - likely pathogenic g.228567032del g.227702316del - - SLC19A3_000057 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3475 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.18T>A r.(?) p.(Thr6=) Unknown - likely benign g.228567017A>T g.227702301A>T SLC19A3(NM_025243.4):c.18T>A (p.T6=) - SLC19A3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.20C>A r.(?) p.(Ser7*) Both (homozygous) - pathogenic (recessive) g.228567015G>T g.227702299G>T - - SLC19A3_000036 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P39 PubMed: Ortigoza-Escobar 2017 2-generation family, 3 affected, unaffected heterozygous carrier parents - yes Morocco Arab 1m - - - 3 Johan den Dunnen
+/. 1 c.20C>A r.(?) p.(Ser7*) Both (homozygous) - pathogenic (recessive) g.228567015G>T g.227702299G>T - - SLC19A3_000036 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P40 PubMed: Ortigoza-Escobar 2017 P40 - yes Morocco Arab 1m - - - 1 Johan den Dunnen
+/. 1 c.20C>A r.(?) p.(Ser7*) Both (homozygous) - pathogenic (recessive) g.228567015G>T g.227702299G>T - - SLC19A3_000036 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P41 PubMed: Ortigoza-Escobar 2017 - - yes Morocco Arab 42d - - - 1 Johan den Dunnen
+/. 1 c.20C>A r.(?) p.(Ser7*) Both (homozygous) - pathogenic (recessive) g.228567015G>T g.227702299G>T - - SLC19A3_000036 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P42 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Morocco Arab 1m - - - 2 Johan den Dunnen
+/. 1 c.20C>A r.(?) p.(Ser7*) Both (homozygous) - pathogenic (recessive) g.228567015G>T g.227702299G>T - - SLC19A3_000036 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P43 PubMed: Ortigoza-Escobar 2017 P43 - yes Morocco Arab 1m - - - 1 Johan den Dunnen
+/. 1 c.20C>A r.(?) p.(Ser7*) Both (homozygous) - pathogenic (recessive) g.228567015G>T g.227702299G>T - - SLC19A3_000036 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P44 PubMed: Ortigoza-Escobar 2017 family, several affected - no Morocco Arab 20y - - - 1 Johan den Dunnen
+/. 1 c.20C>A r.(?) p.(Ser7*) Both (homozygous) - pathogenic (recessive) g.228567015G>T g.227702299G>T - - SLC19A3_000036 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P45 PubMed: Ortigoza-Escobar 2017 family, several affected - no Morocco Arab 15y - - - 1 Johan den Dunnen
-/. - c.42C>T r.(?) p.(Tyr14=) Unknown - benign g.228566993G>A g.227702277G>A SLC19A3(NM_025243.4):c.42C>T (p.Y14=) - SLC19A3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42C>T r.(?) p.(Tyr14=) Unknown - benign g.228566993G>A g.227702277G>A SLC19A3(NM_025243.4):c.42C>T (p.Y14=) - SLC19A3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.68G>T r.(?) p.(Gly23Val) Both (homozygous) - pathogenic (recessive) g.228566967C>A g.227702251C>A - - SLC19A3_000035 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P2 PubMed: Ortigoza-Escobar 2017 - - yes Morocco Arab - - - - 1 Johan den Dunnen
+/. - c.68G>T r.(?) p.(Gly23Val) Both (homozygous) - pathogenic g.228566967C>A g.227702251C>A - - SLC19A3_000035 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat58 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.68G>T r.(?) p.(Gly23Val) Parent #1 - pathogenic g.228566967C>A g.227702251C>A - - SLC19A3_000035 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121917882 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.68G>T r.(?) p.(Gly23Val) Unknown - likely pathogenic g.228566967C>A - SLC19A3(NM_025243.4):c.68G>T (p.G23V) - SLC19A3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.74dup r.(?) p.(Ser26Leufs*19) Parent #1 - pathogenic (recessive) g.228566966dup g.227702250dup 74dupT - SLC19A3_000034 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P3 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Spain white, European - - - - 2 Johan den Dunnen
+/. 1 c.74dup r.(?) p.(Ser26Leufs*19) Parent #1 - pathogenic (recessive) g.228566966dup g.227702250dup 74dupT - SLC19A3_000034 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P4 PubMed: Ortigoza-Escobar 2017 P4 - no Spain white, European - - - - 1 Johan den Dunnen
+/. 1 c.74dup r.(?) p.(Ser26Leufs*19) Parent #1 - pathogenic (recessive) g.228566966dup g.227702250dup 74dupT - SLC19A3_000034 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P28 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Portugal white, European - - - - 2 Johan den Dunnen
+/. 1 c.74dup r.(?) p.(Ser26Leufs*19) Parent #1 - pathogenic (recessive) g.228566966dup g.227702250dup 74dupT - SLC19A3_000034 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P29 PubMed: Ortigoza-Escobar 2017 P29 - no Portugal white, European - - - - 1 Johan den Dunnen
+/. 1 c.74dup r.(?) p.(Ser26Leufs*19) Parent #1 - pathogenic (recessive) g.228566966dup g.227702250dup 74dupT - SLC19A3_000034 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P70 PubMed: Ortigoza-Escobar 2017 - - no - white, Hispanic - - - - 1 Johan den Dunnen
+/. - c.74dup r.(?) p.(Ser26Leufs*19) Both (homozygous) - pathogenic g.228566966dup g.227702250dup c.74dupT - SLC19A3_000034 - PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat109 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
+/. 1 c.91T>C r.(?) p.(Ser31Pro) Parent #1 - pathogenic (recessive) g.228566944A>G g.227702228A>G - - SLC19A3_000033 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P46 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no - African/Afro-Caribbean 2m - - - 2 Johan den Dunnen
+/. 1 c.91T>C r.(?) p.(Ser31Pro) Parent #1 - pathogenic (recessive) g.228566944A>G g.227702228A>G - - SLC19A3_000033 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P47 PubMed: Ortigoza-Escobar 2017 P47 - no - African/Afro-Caribbean 9m - - - 1 Johan den Dunnen
+?/. - c.99dup r.(?) p.(Phe34Ilefs*11) Unknown - likely pathogenic g.228566936dup - SLC19A3(NM_025243.4):c.99dup (p.(Phe34Ilefs*11)) - SLC19A3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.151A>G r.(?) p.(Ile51Val) Unknown - likely benign g.228564280T>C - SLC19A3(NM_025243.3):c.151A>G (p.I51V) - SLC19A3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.157A>G r.(?) p.(Asn53Asp) Both (homozygous) - pathogenic (recessive) g.228564274T>C g.227699558T>C - - SLC19A3_000032 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P34 PubMed: Ortigoza-Escobar 2017 2-generation family, 3 affected, unaffected heterozygous carrier parents - no Iraq Arab - - - - 3 Johan den Dunnen
+/. 2 c.157A>G r.(?) p.(Asn53Asp) Both (homozygous) - pathogenic (recessive) g.228564274T>C g.227699558T>C - - SLC19A3_000032 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P35 PubMed: Ortigoza-Escobar 2017 P35 - no Iraq Arab - - - - 1 Johan den Dunnen
+/. 2 c.157A>G r.(?) p.(Asn53Asp) Both (homozygous) - pathogenic (recessive) g.228564274T>C g.227699558T>C - - SLC19A3_000032 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P36 PubMed: Ortigoza-Escobar 2017 P36 - no Iraq Arab - - - - 1 Johan den Dunnen
+?/. - c.191dup r.(?) p.(Val65Glyfs*160) Both (homozygous) ACMG likely pathogenic g.228564240dup g.227699524dup SLC19A3, NM_025243.3, c.191dupT, p,Val65Glyfs*160 - SLC19A3_000060 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 33 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
+/. 2 c.280T>C r.(?) p.(Trp94Arg) Parent #1 - pathogenic (recessive) g.228564151A>G g.227699435A>G - - SLC19A3_000031 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P30 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Germany white, European 12y - - - 2 Johan den Dunnen
+/. 2 c.280T>C r.(?) p.(Trp94Arg) Parent #1 - pathogenic (recessive) g.228564151A>G g.227699435A>G - - SLC19A3_000031 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P31 PubMed: Ortigoza-Escobar 2017 P31 - no Germany white, European 13y - - - 1 Johan den Dunnen
-/. - c.291G>C r.(?) p.(Leu97=) Unknown - benign g.228564140C>G g.227699424C>G SLC19A3(NM_025243.4):c.291G>C (p.L97=) - SLC19A3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>A r.(?) p.(Val103=) Unknown - likely benign g.228564122C>T g.227699406C>T SLC19A3(NM_025243.4):c.309G>A (p.V103=) - SLC19A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368A>G r.(?) p.(Tyr123Cys) Unknown - VUS g.228564063T>C - SLC19A3(NM_025243.4):c.368A>G (p.Y123C) - SLC19A3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383A>G r.(?) p.(Tyr128Cys) Unknown - VUS g.228564048T>C g.227699332T>C SLC19A3(NM_025243.3):c.383A>G (p.Y128C), SLC19A3(NM_025243.4):c.383A>G (p.(Tyr128Cys), p.Y128C) - SLC19A3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383A>G r.(?) p.(Tyr128Cys) Unknown - VUS g.228564048T>C - SLC19A3(NM_025243.3):c.383A>G (p.Y128C), SLC19A3(NM_025243.4):c.383A>G (p.(Tyr128Cys), p.Y128C) - SLC19A3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383A>G r.(?) p.(Tyr128Cys) Unknown - VUS g.228564048T>C - SLC19A3(NM_025243.3):c.383A>G (p.Y128C), SLC19A3(NM_025243.4):c.383A>G (p.(Tyr128Cys), p.Y128C) - SLC19A3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390G>T r.(?) p.(Val130=) Unknown - likely benign g.228564041C>A - SLC19A3(NM_025243.3):c.390G>T (p.V130=) - SLC19A3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399C>G r.(?) p.(Pro133=) Unknown - likely benign g.228564032G>C g.227699316G>C SLC19A3(NM_025243.4):c.399C>G (p.P133=) - SLC19A3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.421G>A r.(?) p.(Gly141Ser) Unknown - likely benign g.228564010C>T g.227699294C>T SLC19A3(NM_025243.3):c.421G>A (p.G141S), SLC19A3(NM_025243.4):c.421G>A (p.G141S) - SLC19A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.421G>A r.(?) p.(Gly141Ser) Unknown - likely benign g.228564010C>T g.227699294C>T SLC19A3(NM_025243.3):c.421G>A (p.G141S), SLC19A3(NM_025243.4):c.421G>A (p.G141S) - SLC19A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421G>A r.(?) p.(Gly141Ser) Unknown - benign g.228564010C>T g.227699294C>T SLC19A3(NM_025243.3):c.421G>A (p.G141S), SLC19A3(NM_025243.4):c.421G>A (p.G141S) - SLC19A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.503_505del r.(?) p.(Ser168del) Parent #2 - pathogenic (recessive) g.228563928_228563930del g.227699212_227699214del 503_505delCGT - SLC19A3_000030 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P70 PubMed: Ortigoza-Escobar 2017 - - no - white, Hispanic - - - - 1 Johan den Dunnen
+/. 3 c.516del r.(?) p.(Asn173Thrfs*35) Parent #2 - pathogenic (recessive) g.228563915del g.227699199del 516delC - SLC19A3_000029 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P46 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no - African/Afro-Caribbean 2m - - - 2 Johan den Dunnen
+/. 3 c.516del r.(?) p.(Asn173Thrfs*35) Parent #2 - pathogenic (recessive) g.228563915del g.227699199del 516delC - SLC19A3_000029 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P47 PubMed: Ortigoza-Escobar 2017 P47 - no - African/Afro-Caribbean 9m - - - 1 Johan den Dunnen
-/. - c.520G>A r.(?) p.(Val174Ile) Unknown - benign g.228563911C>T g.227699195C>T SLC19A3(NM_025243.4):c.520G>A (p.V174I) - SLC19A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.520G>A r.(?) p.(Val174Ile) Unknown - benign g.228563911C>T g.227699195C>T SLC19A3(NM_025243.4):c.520G>A (p.V174I) - SLC19A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.541T>C r.(?) p.(Ser181Pro) Both (homozygous) - pathogenic (recessive) g.228563890A>G g.227699174A>G - - SLC19A3_000028 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P48 PubMed: Ortigoza-Escobar 2017 - - no Finland white, European - - - - 1 Johan den Dunnen
+/. 3 c.541T>C r.(?) p.(Ser181Pro) Parent #1 - pathogenic (recessive) g.228563890A>G g.227699174A>G - - SLC19A3_000028 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P49 PubMed: Ortigoza-Escobar 2017 - - no Finland white, European 3y6m - - - 1 Johan den Dunnen
-?/. - c.546G>A r.(?) p.(Val182=) Unknown - likely benign g.228563885C>T g.227699169C>T SLC19A3(NM_025243.3):c.546G>A (p.V182=) - SLC19A3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.562C>G r.(?) p.(Leu188Val) Unknown - VUS g.228563869G>C - SLC19A3(NM_025243.3):c.562C>G (p.L188V) - SLC19A3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613A>G r.(?) p.(Arg205Gly) Unknown - likely benign g.228563818T>C - SLC19A3(NM_025243.3):c.613A>G (p.R205G) - SLC19A3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621A>G r.(?) p.(Ile207Met) Unknown - likely benign g.228563810T>C g.227699094T>C SLC19A3(NM_025243.3):c.621A>G (p.I207M), SLC19A3(NM_025243.4):c.621A>G (p.I207M) - SLC19A3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621A>G r.(?) p.(Ile207Met) Unknown - likely benign g.228563810T>C g.227699094T>C SLC19A3(NM_025243.3):c.621A>G (p.I207M), SLC19A3(NM_025243.4):c.621A>G (p.I207M) - SLC19A3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.621A>G r.(?) p.(Ile207Met) Unknown - benign g.228563810T>C g.227699094T>C SLC19A3(NM_025243.3):c.621A>G (p.I207M), SLC19A3(NM_025243.4):c.621A>G (p.I207M) - SLC19A3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.756G>A r.(?) p.(Leu252=) Unknown - benign g.228563675C>T g.227698959C>T - - SLC19A3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.776_777del r.(?) p.(Val259Glyfs*34) Unknown - pathogenic g.228563656_228563657del - SLC19A3(NM_001371414.1):c.764_765delTG (p.V255Gfs*34), SLC19A3(NM_025243.4):c.776_777delTG (p.V259Gfs*34) - SLC19A3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.776_777del r.(?) p.(Val259Glyfs*34) Unknown - likely pathogenic g.228563656_228563657del - SLC19A3(NM_001371414.1):c.764_765delTG (p.V255Gfs*34), SLC19A3(NM_025243.4):c.776_777delTG (p.V259Gfs*34) - SLC19A3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801A>G r.(?) p.(Gln267=) Unknown - likely benign g.228563630T>C g.227698914T>C SLC19A3(NM_025243.3):c.801A>G (p.Q267=) - SLC19A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.833T>C r.(?) p.(Leu278Pro) Parent #2 - pathogenic (recessive) g.228563598A>G g.227698882A>G - - SLC19A3_000027 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P49 PubMed: Ortigoza-Escobar 2017 - - no Finland white, European 3y6m - - - 1 Johan den Dunnen
+?/. - c.842G>A r.(?) p.(Trp281*) Unknown - likely pathogenic (dominant) g.228563589C>T g.227698873C>T - - SLC19A3_000062 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - THMD2 - - - - - - - - - - - 1 Min Peng
?/. - c.891C>G r.(?) p.(Asn297Lys) Unknown - VUS g.228563540G>C g.227698824G>C - - SLC19A3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901A>G r.(?) p.(Ile301Val) Unknown - likely benign g.228563530T>C g.227698814T>C SLC19A3(NM_025243.4):c.901A>G (p.I301V) - SLC19A3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919G>C r.(?) p.(Ala307Pro) Unknown - VUS g.228563512C>G g.227698796C>G SLC19A3(NM_025243.3):c.919G>C (p.A307P) - SLC19A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952G>A r.(?) p.(Ala318Thr) Unknown - pathogenic g.228563479C>T - - - SLC19A3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.972del r.(?) p.(Phe325Leufs*13) Unknown - pathogenic g.228563460del - SLC19A3(NM_025243.4):c.972delC (p.F325Lfs*13) - SLC19A3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.977G>T r.(?) p.(Gly326Val) Unknown - likely benign g.228563454C>A g.227698738C>A SLC19A3(NM_025243.3):c.977G>T (p.G326V) - SLC19A3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980-14A>G r.(=) p.(=) Unknown - pathogenic g.228560811T>C g.227696095T>C - - SLC19A3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.980-14A>G r.spl p.(=) Unknown - likely pathogenic g.228560811T>C g.227696095T>C - - SLC19A3_000022 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. 2i c.980-14A>G r.spl p.(Gly327Aspfs*8) Parent #2 - pathogenic (recessive) g.228560811T>C g.227696095T>C - - SLC19A3_000022 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P1 PubMed: Ortigoza-Escobar 2017 - - no Spain white, European 14m - - - 1 Johan den Dunnen
+/. 2i c.980-14A>G r.spl p.(Gly327Aspfs*8) Parent #2 - pathogenic (recessive) g.228560811T>C g.227696095T>C - - SLC19A3_000022 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P3 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Spain white, European - - - - 2 Johan den Dunnen
+/. 2i c.980-14A>G r.spl p.(Gly327Aspfs*8) Parent #2 - pathogenic (recessive) g.228560811T>C g.227696095T>C - - SLC19A3_000022 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P4 PubMed: Ortigoza-Escobar 2017 P4 - no Spain white, European - - - - 1 Johan den Dunnen
+/. 2i c.980-14A>G r.spl p.(Gly327Aspfs*8) Parent #2 - pathogenic (recessive) g.228560811T>C g.227696095T>C - - SLC19A3_000022 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P28 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Portugal white, European - - - - 2 Johan den Dunnen
+/. 2i c.980-14A>G r.spl p.(Gly327Aspfs*8) Parent #2 - pathogenic (recessive) g.228560811T>C g.227696095T>C - - SLC19A3_000022 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P29 PubMed: Ortigoza-Escobar 2017 P29 - no Portugal white, European - - - - 1 Johan den Dunnen
-?/. - c.980-10T>C r.(=) p.(=) Unknown - likely benign g.228560807A>G g.227696091A>G SLC19A3(NM_025243.3):c.980-10T>C, SLC19A3(NM_025243.4):c.980-10T>C - SLC19A3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.980-10T>C r.(=) p.(=) Unknown - likely benign g.228560807A>G g.227696091A>G SLC19A3(NM_025243.3):c.980-10T>C, SLC19A3(NM_025243.4):c.980-10T>C - SLC19A3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.980-5T>C r.spl? p.? Unknown - likely benign g.228560802A>G g.227696086A>G SLC19A3(NM_025243.4):c.980-5T>C - SLC19A3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.980-4del r.spl? p.? Unknown - benign g.228560808del g.227696092del SLC19A3(NM_025243.4):c.980-4delT - SLC19A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.980-4del r.spl? p.? Unknown - benign g.228560808del g.227696092del SLC19A3(NM_025243.4):c.980-4delT - SLC19A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1049T>C r.(?) p.(Val350Ala) Parent #1 - benign g.228560728A>G g.227696012A>G - - SLC19A3_000050 40 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34507036 Germline - 40/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 40 Mohammed Faruq
+/. 3 c.1079dup r.(?) p.(Leu360Phefs*38) Parent #1 - pathogenic (recessive) g.228560700dup g.227695984dup 1079dupT - SLC19A3_000026 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P1 PubMed: Ortigoza-Escobar 2017 - - no Spain white, European 14m - - - 1 Johan den Dunnen
+/. - c.1079dup r.(?) p.(Leu360PhefsTer38) Unknown - pathogenic g.228560700dup g.227695984dup SLC19A3(NM_025243.4):c.1079dupT (p.L360Ffs*38) - SLC19A3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104T>C r.(?) p.(Asn368=) Unknown - likely benign g.228560673A>G g.227695957A>G SLC19A3(NM_025243.4):c.1104T>C (p.N368=) - SLC19A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112C>T r.(?) p.(Ala371Val) Unknown - likely benign g.228560665G>A g.227695949G>A SLC19A3(NM_025243.3):c.1112C>T (p.A371V), SLC19A3(NM_025243.4):c.1112C>T (p.A371V) - SLC19A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112C>T r.(?) p.(Ala371Val) Unknown - likely benign g.228560665G>A g.227695949G>A SLC19A3(NM_025243.3):c.1112C>T (p.A371V), SLC19A3(NM_025243.4):c.1112C>T (p.A371V) - SLC19A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132A>G r.(?) p.(Ile378Val) Unknown - likely benign g.228560645T>C g.227695929T>C SLC19A3(NM_025243.4):c.1132A>G (p.I378V) - SLC19A3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.1172+1G>A r.spl p.? Unknown - likely pathogenic g.228560604C>T g.227695888C>T - - SLC19A3_000023 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. 4i c.1173-3992_1314+41del r.(?) p.(Gln393*) Parent #2 - pathogenic (recessive) g.228552841_228557015del - 1173-3992_1314+41del4175 - SLC19A3_000025 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P30 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Germany white, European 12y - - - 2 Johan den Dunnen
+/. 4i c.1173-3992_1314+41del r.(?) p.(Gln393*) Parent #2 - pathogenic (recessive) g.228552841_228557015del - 1173-3992_1314+41del4175 - SLC19A3_000025 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P31 PubMed: Ortigoza-Escobar 2017 P31 - no Germany white, European 13y - - - 1 Johan den Dunnen
?/. - c.1204C>T r.(?) p.(Arg402Cys) Unknown - VUS g.228552992G>A g.227688276G>A SLC19A3(NM_025243.3):c.1204C>T (p.R402C), SLC19A3(NM_025243.4):c.1204C>T (p.(Arg402Cys)) - SLC19A3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1204C>T r.(?) p.(Arg402Cys) Unknown - VUS g.228552992G>A - SLC19A3(NM_025243.3):c.1204C>T (p.R402C), SLC19A3(NM_025243.4):c.1204C>T (p.(Arg402Cys)) - SLC19A3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1252C>G r.(?) p.(Gln418Glu) Unknown - VUS g.228552944G>C g.227688228G>C SLC19A3(NM_025243.3):c.1252C>G (p.Q418E) - SLC19A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1264A>G r.(?) p.(Thr422Ala) Both (homozygous) ACMG pathogenic g.228552932T>C g.227688216T>C - - SLC19A3_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - THMD2 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1264A>G r.(?) p.(Thr422Ala) Unknown - pathogenic g.228552932T>C g.227688216T>C - - SLC19A3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1264A>G r.(?) p.(Thr422Ala) Both (homozygous) - pathogenic (recessive) g.228552932T>C g.227688216T>C - - SLC19A3_000001 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P5 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia Arab - - - - 2 Johan den Dunnen
+/. 4 c.1264A>G r.(?) p.(Thr422Ala) Both (homozygous) - pathogenic (recessive) g.228552932T>C g.227688216T>C - - SLC19A3_000001 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P6 PubMed: Ortigoza-Escobar 2017 P6 - yes Saudi Arabia Arab - - - - 1 Johan den Dunnen
+/. 4 c.1264A>G r.(?) p.(Thr422Ala) Both (homozygous) - pathogenic (recessive) g.228552932T>C g.227688216T>C - - SLC19A3_000001 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P7 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia Arab 13y - - - 2 Johan den Dunnen
+/. 4 c.1264A>G r.(?) p.(Thr422Ala) Both (homozygous) - pathogenic (recessive) g.228552932T>C g.227688216T>C - - SLC19A3_000001 - PubMed: Ortigoza-Escobar 2017 - - Germline - - - - - DNA SEQ - - THMD P8 PubMed: Ortigoza-Escobar 2017 P8 - yes Saudi Arabia Arab - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.