Full data view for gene SLC40A1

Information The variants shown are described using the NM_014585.5 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 c.-428_-427delinsTT r.(=) p.(=) Unknown - VUS g.190445613_190445614delinsAA g.189580887_189580888delinsAA -428_-427GG>TT - SLC40A1_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ Whole blood - HFE 22890139-Fam1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - F - Spain - - - - - 1 Mayka Sanchez
-/. - c.-8C>G r.(?) p.(=) Unknown - benign g.190445194G>C - - - SLC40A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112-7A>G r.(=) p.(=) Unknown - VUS g.190440053T>C - - - SLC40A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Ser47Phe) Unknown - VUS g.190440018G>A - - - SLC40A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271+10G>A r.(=) p.(=) Unknown - likely benign g.190439877C>T - SLC40A1(NM_014585.5):c.271+10G>A - SLC40A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327C>T r.(?) p.(=) Unknown - likely benign g.190437632G>A - - - SLC40A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387C>T r.(?) p.(=) Unknown - likely benign g.190437572G>A - - - SLC40A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.470A>G r.(?) p.(Asp157Gly) Unknown - pathogenic g.190436485T>C - - - SLC40A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.485_487del r.(?) p.(Val162del) Unknown - pathogenic g.190436477_190436479del - - - SLC40A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.539T>C r.(?) p.(Ile180Thr) Unknown - VUS g.190430301A>G g.189565575A>G - - SLC40A1_000002 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - HFE 22890139-Fam5Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.610G>A r.(?) p.(Gly204Ser) Parent #1 - pathogenic g.190430230C>T g.189565504C>T - - SLC40A1_000003 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat6 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - - - - 1 Johan den Dunnen
+?/. - c.610G>A r.(?) p.(Gly204Ser) Parent #1 - likely pathogenic g.190430230C>T g.189565504C>T - - SLC40A1_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907377 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.610G>A r.(?) p.(Gly204Ser) Unknown - likely pathogenic g.190430230C>T - - - SLC40A1_000003 - - - rs387907377 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.610G>A r.(?) p.(Gly204Ser) Unknown - likely pathogenic g.190430230C>T - - - SLC40A1_000003 - - - rs387907377 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.626C>T r.(?) p.(Ser209Leu) Unknown - VUS g.190430214G>A - SLC40A1(NM_014585.6):c.626C>T (p.S209L) - SLC40A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663T>C r.(?) p.(Val221=) Unknown - benign g.190430177A>G g.189565451A>G SLC40A1(NM_014585.6):c.663T>C (p.V221=) - SLC40A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663T>C r.(?) p.(Val221=) Unknown - benign g.190430177A>G g.189565451A>G SLC40A1(NM_014585.6):c.663T>C (p.V221=) - SLC40A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.718_720del r.(?) p.(Lys240del) Unknown - VUS g.190430120_190430122del - SLC40A1(NM_014585.6):c.718_720delAAA (p.K240del) - SLC40A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1055C>A r.(?) p.(Thr352Asn) Unknown - VUS g.190428657G>T - NM_014585:c.C1055A (T352N) - SLC40A1_000016 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSJ0692 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.1111C>T r.(?) p.(Arg371Trp) Unknown - likely benign g.190428601G>A - SLC40A1(NM_014585.6):c.1111C>T (p.R371W) - SLC40A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112G>A r.(?) p.(Arg371Gln) Unknown - likely benign g.190428600C>T - - - SLC40A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1328C>T r.(?) p.(Pro443Leu) Both (homozygous) - VUS g.190428384G>A g.189563658G>A - - SLC40A1_000006 - PubMed: Beck 2014 - rs45606432 Germline - - - - - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - - - - 5 Johan den Dunnen
?/. - c.1570G>A r.(?) p.(Val524Ile) Unknown - VUS g.190426750C>T g.189562024C>T SLC40A1(NM_014585.6):c.1570G>A (p.V524I) - SLC40A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1619G>A r.(?) p.(Arg540Gln) Unknown - VUS g.190426701C>T - - - SLC40A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654G>A r.(?) p.(Ala552Thr) Unknown - likely benign g.190426666C>T - - - SLC40A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1681A>G r.(?) p.(Arg561Gly) Unknown - benign g.190426639T>C - - - SLC40A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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