Unique variants in gene SLC25A4

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

8 entries on 1 page. Showing entries 1 - 8.
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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.112-65dup r.(=) p.(=) - VUS g.186065853dup g.185144699dup - - SLC25A4_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.154A>C r.(?) p.(Lys52Gln) - VUS g.186065960A>C - SLC25A4(NM_001151.3):c.154A>C (p.K52Q) - SLC25A4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., +?/. 2 2 c.239G>A r.(?) p.(Arg80His) - VUS, likely pathogenic g.186066045G>A g.185144891G>A - - SLC25A4_000002 - PubMed: Taylor 2014, Reinson et al. (submitted) - - Germline, De novo - - - - - Johan den Dunnen, Sander Pajusalu
-?/. 1 - c.567T>C r.(?) p.(Ala189=) - likely benign g.186066373T>C g.185145219T>C - - SLC25A4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.628A>G r.(?) p.(Ile210Val) - likely benign g.186066942A>G g.185145788A>G - - SLC25A4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.742G>A r.(?) p.(Asp248Asn) - VUS g.186067970G>A g.185146816G>A - - SLC25A4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.774G>C r.(?) p.(Trp258Cys) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.850G>A r.(?) p.(Gly284Ser) - 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 - - - - - VKGL-NL_Utrecht
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