Full data view for gene SLC25A4

Information The variants shown are described using the NM_001151.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.112-65dup r.(=) p.(=) Both (homozygous) - VUS g.186065853dup g.185144699dup - - SLC25A4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.154A>C r.(?) p.(Lys52Gln) Unknown - VUS g.186065960A>C - SLC25A4(NM_001151.3):c.154A>C (p.K52Q) - SLC25A4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.239G>A r.(?) p.(Arg80His) Unknown - likely pathogenic g.186066045G>A g.185144891G>A - - SLC25A4_000002 - Reinson et al. (submitted) - - De novo - - - 0 - DNA SEQ, SEQ-NG-I muscle - myopathy, mitochondrial - Reinson (submitted) - F no Estonia - - 0 yes - 1 Sander Pajusalu
?/. - c.239G>A r.(?) p.(Arg80His) Unknown - VUS g.186066045G>A g.185144891G>A - - SLC25A4_000002 - PubMed: Taylor 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat43 PubMed: Taylor 2014 - F - United Kingdom (Great Britain) British <01m 0 - - 1 Johan den Dunnen
-?/. - c.567T>C r.(?) p.(Ala189=) Unknown - likely benign g.186066373T>C g.185145219T>C - - SLC25A4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.628A>G r.(?) p.(Ile210Val) Unknown - likely benign g.186066942A>G g.185145788A>G - - SLC25A4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742G>A r.(?) p.(Asp248Asn) Unknown - VUS g.186067970G>A g.185146816G>A - - SLC25A4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.774G>C r.(?) p.(Trp258Cys) Unknown - VUS g.186068002G>C g.185146848G>C SLC25A4(NM_001151.3):c.774G>C (p.W258C) - SLC25A4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850G>A r.(?) p.(Gly284Ser) Unknown - VUS g.186068078G>A g.185146924G>A SLC25A4(NM_001151.3):c.850G>A (p.G284S) - SLC25A4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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