All transcript variants in gene SLC25A4

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

7 entries on 1 page. Showing entries 1 - 7.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. - c.112-74_112-73insT - - p.(=) g.186065844_186065845insT g.185144690_185144691insT - - SLC25A4_000001 - - - - Germline - - - - - Yu Sun
+?/. 2 c.239G>A - r.(?) p.(Arg80His) g.186066045G>A g.185144891G>A - - SLC25A4_000002 - Reinson et al. (submitted) - - De novo - - - 0 - Sander Pajusalu
-?/. - c.567T>C likely benign r.(?) p.(=) g.186066373T>C - - - SLC25A4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.628A>G likely benign r.(?) p.(Ile210Val) g.186066942A>G - - - SLC25A4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.742G>A VUS r.(?) p.(Asp248Asn) g.186067970G>A - - - SLC25A4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.774G>C VUS r.(?) p.(Trp258Cys) g.186068002G>C - SLC25A4(NM_001151.3):c.774G>C (p.W258C) - SLC25A4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.850G>A VUS r.(?) p.(Gly284Ser) g.186068078G>A - SLC25A4(NM_001151.3):c.850G>A (p.G284S) - SLC25A4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend