Unique variants in gene NDUFS4

Information The variants shown are described using the NM_002495.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

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     
-/. 1 - c.12G>C benign r.(?) p.(=) g.52856504G>C - NDUFS4(NM_002495.3):c.12G>C (p.V4=) - NDUFS4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.198A>C benign r.(?) p.(=) g.52942083A>C - NDUFS4(NM_002495.3):c.198A>C (p.G66=) - NDUFS4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.216A>G VUS r.(?) p.(Ile72Met) g.52942101A>G - NDUFS4(NM_002495.2):c.216A>G (p.(Ile72Met)) - NDUFS4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.278A>G VUS r.(?) p.(Asn93Ser) g.52942163A>G - NDUFS4(NM_002495.3):c.278A>G (p.N93S) - NDUFS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.291del pathogenic r.(?) p.(Trp97*) g.52942176del - NDUFS4(NM_002495.3):c.291delG (p.W97*) - NDUFS4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.312A>G benign r.(?) p.(=) g.52942197A>G - NDUFS4(NM_002495.3):c.312A>G (p.R104=) - NDUFS4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.350+2T>C pathogenic r.spl? p.? g.52942237T>C - NDUFS4(NM_002495.3):c.350+2T>C - NDUFS4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.355G>C likely pathogenic r.(?) p.(Asp119His) g.52954385G>C - - - NDUFS4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 2 - c.406T>G likely benign, VUS r.(?) p.(Ser136Ala) g.52954436T>G - NDUFS4(NM_002495.2):c.406T>G (p.(Ser136Ala)), NDUFS4(NM_002495.3):c.406T>G (p.S136A) - NDUFS4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-/. 1 - c.424+19dup benign r.(=) p.(=) g.52954473dup - NDUFS4(NM_002495.3):c.424+19_424+20insT, NDUFS4(NM_002495.3):c.424+20delGinsTG - NDUFS4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.462del pathogenic, ACMG: 5 r.(?) p.(Lys154Asnfs*35) g.52978985del g.53683155del - - NDUFS4_000001 VKGL data sharing initiative Nederland Trujillano et al., submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Daniel Trujillano
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