Full data view for gene SLC39A8

Information The variants shown are described using the NM_022154.5 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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     
?/. - c.97G>A r.(?) p.(Val33Met) Parent #1 - VUS g.103265723C>T g.102344566C>T - - SLC39A8_000005 no interpretation available; 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs373562040 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
+?/. - c.97G>A r.(?) p.(Val33Met) Paternal (confirmed) - likely pathogenic (recessive) g.103265723C>T g.102344566C>T - - SLC39A8_000005 - PubMed: Park 2015 - - Germline - - - - - DNA SEQ-NG - WES ID PatB PubMed: Park 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline - - - - - DNA SEQ - - ID FamAPat1 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Hutterite-D - - - - 1 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamBPat2 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hutterite-D - - - - 1 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline - - - - - DNA SEQ - - ID FamCPat3 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hutterite-S - - - - 1 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline yes - - - - DNA SEQ - - ID FamDPat4 PubMed: Boycott 2015 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - United States Hutterite-S - - - - 2 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline yes - - - - DNA SEQ - - ID FamDPat5 PubMed: Boycott 2015 sister F - United States Hutterite-S - - - - 1 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline - - - - - DNA SEQ - - ID FamEPat6 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hutterite-S - - - - 1 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline yes - - - - DNA SEQ-NG - WES ID FamFPat7 PubMed: Boycott 2015 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - Egypt Egypt - - - - 2 Johan den Dunnen
+/. - c.112G>C r.(?) p.(Gly38Arg) Both (homozygous) - pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Boycott 2015 - - Germline yes - - - - DNA SEQ-NG - WES ID FamFPat8 PubMed: Boycott 2015 brother M - Egypt Egypt - - - - 1 Johan den Dunnen
+?/. - c.112G>C r.(?) p.(Gly38Arg) Paternal (confirmed) - likely pathogenic (recessive) g.103265708C>G g.102344551C>G - - SLC39A8_000011 - PubMed: Park 2015 - - Germline - - - - - DNA SEQ-NG - WES ID PatA PubMed: Park 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.153G>C r.(?) p.(Leu51Phe) Unknown - likely benign g.103265667C>G g.102344510C>G SLC39A8(NM_001135146.1):c.153G>C (p.(Leu51Phe)) - SLC39A8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.220-5T>A r.spl? p.? Both (homozygous) - VUS g.103236992A>T - c.220-5T>A /p.? - SLC39A8_000007 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.610G>T r.(?) p.(Gly204Cys) Maternal (confirmed) - likely pathogenic (recessive) g.103226211C>A g.102305054C>A - - SLC39A8_000010 - PubMed: Park 2015 - - Germline - - - - - DNA SEQ-NG - WES ID PatB PubMed: Park 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1004G>C r.(?) p.(Ser335Thr) Paternal (confirmed) - likely pathogenic (recessive) g.103189073C>G g.102267916C>G - - SLC39A8_000009 - PubMed: Park 2015 - - Germline - - - - - DNA SEQ-NG - WES ID PatB PubMed: Park 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1019T>A r.(?) p.(Ile340Asn) Maternal (confirmed) - likely pathogenic (recessive) g.103189058A>T g.102267901A>T - - SLC39A8_000008 - PubMed: Park 2015 - - Germline - - - - - DNA SEQ-NG - WES ID PatA PubMed: Park 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 Johan den Dunnen
-/. - c.1166A>G r.(?) p.(Asn389Ser) Unknown - benign g.103188714T>C g.102267557T>C SLC39A8(NM_001135147.1):c.1166A>G (p.N389S) - SLC39A8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1207T>G r.(?) p.(Phe403Val) Unknown - VUS g.103188673A>C - SLC39A8(NM_001135147.1):c.1207T>G (p.F403V) - SLC39A8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1253T>C r.(?) p.(Met418Thr) Unknown - likely benign g.103184331A>G - SLC39A8(NM_001135147.1):c.1253T>C (p.M418T) - SLC39A8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3589G>A r.(=) p.(=) Unknown - VUS g.103180612C>T - SLC39A8(NM_001135147.1):c.1326G>A (p.T442=) - SLC39A8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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