All transcript variants in gene NDUFAF5

Information The variants shown are described using the NM_024120.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/. 1 c.155A>C pathogenic (recessive) r.(?) p.(Lys52Thr) g.13765869A>C - - - NDUFAF5_000005 compound heterozygous with c.836T>G Simon, unpublished - - Germline yes - - 0 - Mariella Simon
-?/. - c.216G>A likely benign r.(?) p.(=) g.13765930G>A - NDUFAF5(NM_024120.4):c.216G>A (p.K72=) - NDUFAF5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.216G>A likely benign r.(?) p.(=) g.13765930G>A - NDUFAF5(NM_024120.4):c.216G>A (p.K72=) - NDUFAF5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.222+8_222+15del benign r.(=) p.(=) g.13765944_13765951del - NDUFAF5(NM_024120.4):c.222+8_222+15delCGCGGGGC - NDUFAF5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1i c.222+18_222+33dup VUS r.(?) p.(?) g.13765954_13765969dup - 222+8_222+9insGCGGGGCGGCGGGGCG - NDUFAF5_000009 - Simon, unpublished - - De novo - - - 0 - Mariella Simon
+?/. 1i c.223-907A>C likely pathogenic (recessive) r.spl p.? g.13767051A>C - - - NDUFAF5_000008 compound heterozygous with c.327G>C and de novo c.222+8_222+9insGCGGGGCGGCGGGGCG20.4 Simon, unpublished - - Germline - - - 0 - Mariella Simon
+/. 3 c.327G>C pathogenic (recessive) r.spl p.? g.13769298G>C - - - NDUFAF5_000007 compound heterozygous with c.223-907A>C and c.222+8_222+9insGCGGGGCGGCGGGGCG; last nucleotide of exon, affects splicing confirmed Simon, unpublished ClinVar-265061 rs150613320 Germline yes - - 0 - Mariella Simon
-?/. - c.375+16A>G likely benign r.(=) p.(=) g.13773889A>G - NDUFAF5(NM_024120.4):c.375+16A>G - NDUFAF5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.520-1G>C VUS r.spl? p.? g.13782131G>C - NDUFAF5(NM_024120.4):c.520-1G>C - NDUFAF5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.611C>T VUS r.(?) p.(Ala204Val) g.13782223C>T - NDUFAF5(NM_001352407.1):c.50C>T (p.A17V) - NDUFAF5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.752T>C VUS r.(?) p.(Met251Thr) g.13789522T>C - NDUFAF5(NM_024120.4):c.752T>C (p.(Met251Thr)) - NDUFAF5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.775C>T pathogenic r.(?) p.(Gln259*) g.13789545C>T - NDUFAF5(NM_024120.4):c.775C>T (p.Q259*) - NDUFAF5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 9 c.836T>G pathogenic (recessive) r.(?) p.(Met279Arg) g.13797166T>G - - - NDUFAF5_000006 compound heterozygous with c.155A>C - ClinVar-225036 rs761389904 Germline yes - - 0 - Mariella Simon
+/. 9 c.836T>G pathogenic (recessive) r.(?) p.(Met279Arg) g.13797166T>G - - - NDUFAF5_000006 found homozygous in atypical Leigh Syndrome patient Simon, unpublished ClinVar-225036 rs761389904 Germline yes - - 0 - Mariella Simon
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