Unique variants in gene SLC39A13

Information The variants shown are described using the NM_152264.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

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.58A>G r.(?) p.(Thr20Ala) - benign g.47431703A>G g.47410152A>G SLC39A13(NM_001128225.2):c.58A>G (p.T20A) - SLC39A13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.83= r.(=) p.(Gly28=) - benign g.47431728A>G g.47410177A>G SLC39A13(NM_001128225.2):c.83A>G (p.E28G) - SLC39A13_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 2 - c.119G>A r.(?) p.(Arg40Gln) - benign g.47431764G>A g.47410213G>A SLC39A13(NM_001128225.2):c.119G>A (p.R40Q) - SLC39A13_000003 VKGL data sharing initiative Nederland, 19 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs35741412 CLASSIFICATION record, Germline - 19/2795 individuals - - - VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.216C>T r.(?) p.(Leu72=) - likely benign g.47431861C>T g.47410310C>T SLC39A13(NM_001128225.2):c.216C>T (p.L72=) - SLC39A13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.301+15G>A r.(=) p.(=) - benign g.47431961G>A g.47410410G>A SLC39A13(NM_001128225.2):c.301+15G>A - SLC39A13_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.301+20C>T r.(=) p.(=) - benign g.47431966C>T g.47410415C>T SLC39A13(NM_001128225.2):c.301+20C>T - SLC39A13_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 2 - c.398C>T r.(?) p.(Thr133Met) - likely benign, VUS g.47433573C>T g.47412022C>T SLC39A13(NM_001128225.2):c.398C>T (p.T133M) - SLC39A13_000006 VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs140574574 CLASSIFICATION record, Germline - 14/2794 individuals - - - VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.415+17G>A r.(=) p.(=) - likely benign g.47433607G>A g.47412056G>A SLC39A13(NM_001128225.2):c.415+17G>A - SLC39A13_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.416-13C>T r.(=) p.(=) - benign g.47433884C>T g.47412333C>T SLC39A13(NM_001128225.2):c.416-13C>T - SLC39A13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.439C>G r.(?) p.(Gln147Glu) - likely benign g.47433920C>G g.47412369C>G SLC39A13(NM_001128225.2):c.439C>G (p.Q147E) - SLC39A13_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.571G>A r.(?) p.(Ala191Thr) - likely benign g.47434984G>A g.47413433G>A SLC39A13(NM_001128225.2):c.571G>A (p.A191T) - SLC39A13_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.573G>A r.(?) p.(Ala191=) - benign g.47434986G>A g.47413435G>A SLC39A13(NM_001128225.2):c.573G>A (p.A191=) - SLC39A13_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.696C>T r.(?) p.(His232=) - likely benign g.47435198C>T g.47413647C>T SLC39A13(NM_001128225.2):c.696C>T (p.H232=) - SLC39A13_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.738C>T r.(?) p.(Ile246=) - likely benign g.47435978C>T g.47414427C>T SLC39A13(NM_001128225.2):c.738C>T (p.(=)) - PSMC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.919+7G>A r.(=) p.(=) - likely benign g.47436467G>A g.47414916G>A SLC39A13(NM_001128225.2):c.919+7G>A - PSMC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.919+16G>A r.(=) p.(=) - likely benign g.47436476G>A g.47414925G>A SLC39A13(NM_001128225.2):c.919+16G>A - PSMC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1016C>T r.(?) p.(Pro339Leu) - likely benign g.47436707C>T g.47415156C>T SLC39A13(NM_001128225.2):c.1037C>T (p.P346L) - SLC39A13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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