Full data view for gene SLC25A12

Information The variants shown are described using the NM_003705.4 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.? r.(?) p.? Both (homozygous) - VUS g.? g.? NM_003705.4:c.1333G>A (Ala455Thr) - SNRNP200_000007 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat33 PubMed: Kemp 2011, PubMed: Taylor 2014 - F yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.94C>T r.(?) p.(Arg32Cys) Unknown - VUS g.172725306G>A - SLC25A12(NM_003705.4):c.94C>T (p.R32C) - SLC25A12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99T>C r.(?) p.(Tyr33=) Unknown - benign g.172725301A>G g.171868791A>G SLC25A12(NM_003705.5):c.99T>C (p.Y33=) - SLC25A12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325+3129C>G r.(=) p.(=) Unknown - benign g.172709215G>C g.171852705G>C SLC25A12(NM_003705.5):c.325+3129C>G - SLC25A12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728G>A r.(?) p.(Arg243Lys) Parent #1 - VUS g.172691260C>T g.171834750C>T - - SLC25A12_000008 conflicting interpretations of pathogenicity; 69 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35881803 Germline - 69/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 69 Mohammed Faruq
-?/. - c.941G>T r.(?) p.(Gly314Val) Unknown - likely benign g.172671702C>A - SLC25A12(NM_003705.4):c.941G>T (p.G314V) - SLC25A12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.983A>G r.(?) p.(Tyr328Cys) Unknown - VUS g.172671660T>C - SLC25A12(NM_003705.4):c.983A>G (p.Y328C) - SLC25A12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995T>G r.(?) p.(Leu332Arg) Unknown - VUS g.172671648A>C g.171815138A>C SLC25A12(NM_003705.4):c.995T>G (p.L332R), SLC25A12(NM_003705.5):c.995T>G (p.(Leu332Arg)) - SLC25A12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995T>G r.(?) p.(Leu332Arg) Unknown - VUS g.172671648A>C - SLC25A12(NM_003705.4):c.995T>G (p.L332R), SLC25A12(NM_003705.5):c.995T>G (p.(Leu332Arg)) - SLC25A12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1335C>A r.(?) p.(Asn445Lys) Both (homozygous) - pathogenic g.172650248G>T g.171793738G>T - - SLC25A12_000005 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat24 PubMed: Pronicka 2016 no family history F - Poland - - - - - 1 Johan den Dunnen
?/. - c.1385C>T r.(?) p.(Thr462Met) Parent #1 - VUS g.172650198G>A g.171793688G>A - - SLC25A12_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138477378 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.1418G>A r.(?) p.(Arg473Gln) Parent #1 - VUS g.172650165C>T g.171793655C>T - - SLC25A12_000006 conflicting interpretations of pathogenicity; 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35565687 Germline - 23/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
-?/. - c.1458G>A r.(?) p.(Ala486=) Unknown - likely benign g.172648088C>T - SLC25A12(NM_003705.4):c.1458G>A (p.A486=), SLC25A12(NM_003705.5):c.1458G>A (p.A486=) - SLC25A12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458G>A r.(?) p.(Ala486=) Unknown - likely benign g.172648088C>T - SLC25A12(NM_003705.4):c.1458G>A (p.A486=), SLC25A12(NM_003705.5):c.1458G>A (p.A486=) - SLC25A12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1618G>T r.(?) p.(Asp540Tyr) Unknown - VUS g.172644425C>A g.171787915C>A SLC25A12(NM_003705.4):c.1618G>T (p.D540Y) - SLC25A12_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1756C>A r.(?) p.(=) Unknown - likely benign g.172644160G>T - SLC25A12(NM_003705.5):c.1756C>A (p.(Arg586=)) - SLC25A12_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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