Unique variants in gene NDUFS3

Information The variants shown are described using the NM_004551.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.-1547C>T VUS r.(?) p.(=) g.47599097C>T - KBTBD4(NM_001318716.1):c.602G>A (p.Trp201*) - KBTBD4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-156C>T likely benign r.(?) p.(=) g.47600488C>T - KBTBD4(NM_016506.5):c.-138G>A (p.(=), p.(Ala6Thr)) - KBTBD4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.68-10C>T likely benign r.(=) p.(=) g.47600811C>T - NDUFS3(NM_004551.2):c.68-10C>T - NDUFS3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.475G>C VUS r.(?) p.(Val159Leu) g.47603733G>C - NDUFS3(NM_004551.2):c.475G>C (p.V159L) - NDUFS3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.550C>G likely benign r.(?) p.(Leu184Val) g.47603943C>G - NDUFS3(NM_004551.2):c.550C>G (p.(Leu184Val)) - FAM180B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.591T>C likely benign r.(?) p.(=) g.47603984T>C - NDUFS3(NM_004551.2):c.591T>C (p.P197=) - NDUFS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*3552T>C VUS r.(=) p.(=) g.47609585T>C - FAM180B(NM_001164379.1):c.157-6T>C (p.(=)) - FAM180B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3640G>A likely benign r.(=) p.(=) g.47609673G>A - FAM180B(NM_001164379.1):c.239G>A (p.(Arg80His)) - C1QTNF4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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