All variants in the SLC40A1 gene

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. _1 c.-428_-427delinsTT r.(=) p.(=) - VUS g.190445613_190445614delinsAA g.189580887_189580888delinsAA -428_-427GG>TT - SLC40A1_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - Johan den Dunnen
?/. - c.140C>T r.(?) p.(Ser47Phe) - VUS g.190440018G>A - - - SLC40A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.271+10G>A r.(=) p.(=) - likely benign g.190439877C>T - SLC40A1(NM_014585.5):c.271+10G>A - SLC40A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 6 c.539T>C r.(?) p.(Ile180Thr) - VUS g.190430301A>G g.189565575A>G - - SLC40A1_000002 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.610G>A r.(?) p.(Gly204Ser) - pathogenic g.190430230C>T g.189565504C>T - - SLC40A1_000003 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.610G>A r.(?) p.(Gly204Ser) - 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 - 0 - Mohammed Faruq
-/. - c.663T>C r.(?) p.(Val221=) - benign g.190430177A>G g.189565451A>G SLC40A1(NM_014585.5):c.663T>C (p.V221=) - SLC40A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.663T>C r.(?) p.(Val221=) - benign g.190430177A>G g.189565451A>G SLC40A1(NM_014585.5):c.663T>C (p.V221=) - SLC40A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1112G>A r.(?) p.(Arg371Gln) - likely benign g.190428600C>T - - - SLC40A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1328C>T r.(?) p.(Pro443Leu) - VUS g.190428384G>A g.189563658G>A - - SLC40A1_000006 - PubMed: Beck 2014 - rs45606432 Germline - - - 0 - LOVD
?/. - c.1570G>A r.(?) p.(Val524Ile) - VUS g.190426750C>T g.189562024C>T SLC40A1(NM_014585.5):c.1570G>A (p.V524I) - SLC40A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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