Unique variants in gene NDUFS3

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

10 entries on 1 page. Showing entries 1 - 10.
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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.-3504C>G r.(?) p.(=) - likely benign g.47597140C>G g.47575588C>G KBTBD4(NM_016506.5):c.696+5G>C (p.?) - KBTBD4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-1547C>T r.(?) p.(=) - VUS g.47599097C>T g.47577545C>T - - KBTBD4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.68-10C>T r.(=) p.(=) - likely benign g.47600811C>T g.47579259C>T NDUFS3(NM_004551.2):c.68-10C>T - NDUFS3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.475G>C r.(?) p.(Val159Leu) - VUS g.47603733G>C g.47582181G>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 r.(?) p.(Leu184Val) - likely benign g.47603943C>G g.47582391C>G NDUFS3(NM_004551.2):c.550C>G (p.(Leu184Val)) - FAM180B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.568_569del r.(?) p.(Asp190Leufs*19) - pathogenic g.47603961_47603962del g.47582409_47582410del - - NDUFS3_000004 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs863224107 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.591T>C r.(?) p.(Pro197=) - likely benign g.47603984T>C g.47582432T>C NDUFS3(NM_004551.2):c.591T>C (p.P197=) - NDUFS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.736C>T r.(?) p.(Arg246Cys) - - g.47605974C>T - NDUFS3(NM_004551.2):c.736C>T (p.R246C) - FAM180B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.753T>A r.(?) p.(Ser251Arg) - likely benign g.47605991T>A g.47584439T>A NDUFS3(NM_004551.2):c.753T>A (p.S251R) - FAM180B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*3552T>C r.(=) p.(=) - VUS g.47609585T>C g.47588033T>C FAM180B(NM_001164379.1):c.157-6T>C (p.(=)) - FAM180B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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