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)     

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.12G>C r.(?) p.(Val4=) - benign g.52856504G>C g.53560674G>C NDUFS4(NM_002495.3):c.12G>C (p.V4=) - NDUFS4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.198A>C r.(?) p.(Gly66=) - benign g.52942083A>C g.53646253A>C NDUFS4(NM_002495.3):c.198A>C (p.G66=) - NDUFS4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.216A>G r.(?) p.(Ile72Met) - VUS g.52942101A>G g.53646271A>G NDUFS4(NM_002495.2):c.216A>G (p.(Ile72Met)) - NDUFS4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.278A>G r.(?) p.(Asn93Ser) - VUS g.52942163A>G g.53646333A>G NDUFS4(NM_002495.3):c.278A>G (p.N93S) - NDUFS4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.291del r.(?) p.(Trp97Ter) - pathogenic g.52942176del g.53646346del NDUFS4(NM_002495.3):c.291delG (p.W97*) - NDUFS4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.312A>G r.(?) p.(Arg104=) - benign g.52942197A>G g.53646367A>G NDUFS4(NM_002495.3):c.312A>G (p.R104=) - NDUFS4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.350+2T>C r.spl? p.? - pathogenic g.52942237T>C g.53646407T>C NDUFS4(NM_002495.3):c.350+2T>C - NDUFS4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.355G>C r.(?) p.(Asp119His) - likely pathogenic g.52954385G>C g.53658555G>C - - NDUFS4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.406T>G r.(?) p.(Ser136Ala) - likely benign, VUS g.52954436T>G g.53658606T>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 r.(=) p.(=) - benign g.52954473dup g.53658643dup 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_Groningen
+/., +?/. 3 - c.462del r.(?) p.(Lys154AsnfsTer35), p.(Lys154Asnfs*35) ACMG pathogenic, likely pathogenic g.52978985del g.53683155del - - NDUFS4_000001 VKGL data sharing initiative Nederland, no second variant deteced in NDUFS4 Trujillano et al., submitted - rs587776949 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Andreas Laner, Daniel Trujillano
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