Full data view for gene NDUFAF5

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

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

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Owner     
+/. - c.-4565714_*4102144del r.0? p.0? Unknown - pathogenic g.9200001_17900000del g.9200001_17900000del JAG1 del20p12.1-p12.2, - JAG1_000783 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease AgS1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
?/. - c.-2565C>A r.(?) p.(=) Unknown - VUS g.13763150C>A - ESF1(NM_016649.3):c.637G>T (p.V213L) - ESF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.155A>C r.(?) p.(Lys52Thr) Maternal (confirmed) - pathogenic (recessive) g.13765869A>C g.13785223A>C - - NDUFAF5_000005 compound heterozygous with c.836T>G PubMed: Simon 2019, Journal: Simon 2019 - - Germline yes - - - - DNA SEQ - - LS Pat1 PubMed: Simon 2019, Journal: Simon 2019 - - - United States Taiwan - - - - 1 Mariella Simon
-?/. - c.216G>A r.(?) p.(Lys72=) Unknown - likely benign g.13765930G>A g.13785284G>A NDUFAF5(NM_024120.4):c.216G>A (p.K72=), NDUFAF5(NM_024120.5):c.216G>A (p.K72=) - NDUFAF5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>A r.(?) p.(Lys72=) Unknown - likely benign g.13765930G>A g.13785284G>A NDUFAF5(NM_024120.4):c.216G>A (p.K72=), NDUFAF5(NM_024120.5):c.216G>A (p.K72=) - NDUFAF5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A r.(?) p.(Glu74Lys) Unknown - VUS g.13765934G>A g.13785288G>A NDUFAF5(NM_024120.5):c.220G>A (p.E74K) - ESF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222+8_222+15del r.(=) p.(=) Unknown - benign g.13765944_13765951del g.13785298_13785305del NDUFAF5(NM_024120.5):c.222+8_222+15delCGCGGGGC - NDUFAF5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.222+10_222+11insCGGGCGGC r.(=) p.(=) Unknown - VUS g.13765946_13765947insCGGGCGGC - NDUFAF5(NM_024120.5):c.222+10_222+11insCGGGCGGC - ESF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.222+18_222+33dup r.(?) p.(?) Unknown - VUS g.13765954_13765969dup g.13785308_13785323dup 222+8_222+9insGCGGGGCGGCGGGGCG - NDUFAF5_000009 - Simon, unpublished - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - LS Pat3 PubMed: Simon 2019, Journal: Simon 2019 - M - United States - - - - - 1 Mariella Simon
-?/. - c.222+18_222+33dup r.(=) p.(=) Unknown - likely benign g.13765954_13765969dup - NDUFAF5(NM_001352407.2):c.-474+10_-474+25dupCGGGGCGGCGGGGCGG - NDUFAF5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.223-907A>C r.222_223ins[223-961_223-908;c;223-906_223-704] p.Glu74_Val75insAWCTYYTADVVYLEDVRSSPFPSKESTWTTT* Paternal (confirmed) - likely pathogenic (recessive) g.13767051A>C g.13786405A>C - - NDUFAF5_000008 compound heterozygous with c.327G>C and de novo c.222+8_222+9insGCGGGGCGGCGGGGCG20.4 PubMed: Simon 2019, Journal: Simon 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LS Pat3 PubMed: Simon 2019, Journal: Simon 2019 - M - United States - - - - - 1 Mariella Simon
+/. 3 c.327G>C r.264_327del p.Asn89Lysfs*16 Maternal (confirmed) - pathogenic (recessive) g.13769298G>C g.13788652G>C - - NDUFAF5_000007 compound heterozygous with c.223-907A>C and c.222+8_222+9insGCGGGGCGGCGGGGCG; last nucleotide of exon, affects splicing confirmed PubMed: Simon 2019, Journal: Simon 2019 ClinVar-265061 rs150613320 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LS Pat3 PubMed: Simon 2019, Journal: Simon 2019 - M - United States - - - - - 1 Mariella Simon
+/. - c.327G>C r.spl p.(Lys109Asn) Maternal (confirmed) - pathogenic (recessive) g.13769298G>C g.13788652G>C - - NDUFAF5_000007 affects splicing, last nucleotide of exon; found compound heterozygous with p.Gly250Val in patient with Leigh Syndrome PubMed: Simon 2019, Journal: Simon 2019 ClinVar-265061 rs150613320 Germline yes - - - - DNA SEQ - - LS Pat4 PubMed: Simon 2019, Journal: Simon 2019 - M - United States Jewish-Ashkenazi - - - - 1 Mariella Simon
?/. - c.327G>C r.(?) p.(Lys109Asn) Unknown - VUS g.13769298G>C - NDUFAF5(NM_024120.4):c.327G>C (p.K109N) - NDUFAF5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356A>G r.(?) p.(Asp119Gly) Unknown - VUS g.13773854A>G - NDUFAF5(NM_024120.4):c.356A>G (p.D119G) - NDUFAF5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375+16A>G r.(=) p.(=) Unknown - likely benign g.13773889A>G g.13793243A>G NDUFAF5(NM_024120.5):c.375+16A>G - NDUFAF5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412G>A r.(?) p.(Val138Ile) Unknown - likely benign g.13775520G>A - NDUFAF5(NM_024120.4):c.412G>A (p.V138I) - NDUFAF5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422A>G r.(?) p.(Asp141Gly) Unknown - VUS g.13775530A>G - NDUFAF5(NM_024120.5):c.422A>G (p.D141G) - NDUFAF5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436C>T r.(?) p.(Pro146Ser) Unknown - VUS g.13775544C>T - NDUFAF5(NM_024120.5):c.436C>T (p.(Pro146Ser)) - NDUFAF5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520-1G>C r.spl? p.? Unknown - VUS g.13782131G>C g.13801485G>C NDUFAF5(NM_024120.4):c.520-1G>C - NDUFAF5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611C>T r.(?) p.(Ala204Val) Unknown - VUS g.13782223C>T g.13801577C>T NDUFAF5(NM_001352407.1):c.50C>T (p.A17V), NDUFAF5(NM_001352407.2):c.50C>T (p.A17V) - NDUFAF5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611C>T r.(?) p.(Ala204Val) Unknown - VUS g.13782223C>T - NDUFAF5(NM_001352407.1):c.50C>T (p.A17V), NDUFAF5(NM_001352407.2):c.50C>T (p.A17V) - NDUFAF5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641C>T r.(?) p.(Pro214Leu) Unknown - VUS g.13782253C>T g.13801607C>T - - NDUFAF5_000014 - PubMed: Marcogliese 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD, VMD Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.749G>T r.(?) p.(Gly250Val) Paternal (confirmed) - pathogenic (recessive) g.13789519G>T g.13808873G>T - - NDUFAF5_000010 found compound heterozygous with p.Lys109Asn PubMed: Simon 2019, Journal: Simon 2019 ClinVar-372253 rs757043077 Germline - - - - - DNA SEQ - - LS Pat4 PubMed: Simon 2019, Journal: Simon 2019 - M - United States Jewish-Ashkenazi - - - - 1 Mariella Simon
?/. - c.752T>C r.(?) p.(Met251Thr) Unknown - VUS g.13789522T>C g.13808876T>C NDUFAF5(NM_001352407.1):c.191T>C (p.M64T) - NDUFAF5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752T>C r.(?) p.(Met251Thr) Unknown - VUS g.13789522T>C g.13808876T>C NDUFAF5(NM_001352407.1):c.191T>C (p.M64T) - NDUFAF5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.775C>T r.(?) p.(Gln259Ter) Unknown - pathogenic g.13789545C>T g.13808899C>T NDUFAF5(NM_024120.5):c.775C>T (p.Q259*) - NDUFAF5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.826C>T r.(?) p.(Arg276Ter) Unknown - likely pathogenic g.13797156C>T - NDUFAF5(NM_001352407.1):c.265C>T (p.R89*) - NDUFAF5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.836T>G r.(?) p.(Met279Arg) Paternal (confirmed) - pathogenic (recessive) g.13797166T>G g.13816520T>G - - NDUFAF5_000006 compound heterozygous with c.155A>C PubMed: Simon 2019, Journal: Simon 2019 ClinVar-225036 rs761389904 Germline yes - - - - DNA SEQ - - LS Pat1 PubMed: Simon 2019, Journal: Simon 2019 - - - United States Taiwan - - - - 1 Mariella Simon
+/. 9 c.836T>G r.(?) p.(Met279Arg) Both (homozygous) - pathogenic (recessive) g.13797166T>G g.13816520T>G - - NDUFAF5_000006 found homozygous in atypical Leigh Syndrome patient PubMed: Simon 2019, Journal: Simon 2019 ClinVar-225036 rs761389904 Germline yes - - - - DNA SEQ - - LS Pat2 PubMed: Simon 2019, Journal: Simon 2019 - - - United States Taiwan - - - - 1 Mariella Simon
+/. - c.836T>G r.(?) p.(Met279Arg) Parent #1 - pathogenic g.13797166T>G g.13816520T>G - - NDUFAF5_000006 ACMG PS1, PM2, PM3, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F037P040II-2 PubMed: Zheng 2024 family, 2 affected M - China - - - - - 2 Johan den Dunnen
+/. - c.836T>G r.(?) p.(Met279Arg) Parent #1 - pathogenic g.13797166T>G g.13816520T>G - - NDUFAF5_000006 ACMG PS1, PM2, PM3, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F037P039II-1 PubMed: Zheng 2024 relative M - China - - - - - 1 Johan den Dunnen
+/. - c.836T>G r.(?) p.(Met279Arg) Parent #2 - pathogenic g.13797166T>G g.13816520T>G - - NDUFAF5_000006 ACMG PS1, PM2, PM3, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F037P040II-2 PubMed: Zheng 2024 family, 2 affected M - China - - - - - 2 Johan den Dunnen
+/. - c.836T>G r.(?) p.(Met279Arg) Parent #2 - pathogenic g.13797166T>G g.13816520T>G - - NDUFAF5_000006 ACMG PS1, PM2, PM3, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F037P039II-1 PubMed: Zheng 2024 relative M - China - - - - - 1 Johan den Dunnen
-?/. - c.1024A>G r.(?) p.(Lys342Glu) Both (homozygous) - benign g.13797842A>G g.13817196A>G - - NDUFAF5_000019 - PubMed: Hershkovitsz 2021 - - Germline - - - - - DNA SEQ-NG - WES COXPD FamPatII5 PubMed: Hershkovitsz 2021 brother M yes Israel Arab;Christian - - - - 1 Johan den Dunnen
-?/. - c.1024A>G r.(?) p.(Lys342Glu) Both (homozygous) - benign g.13797842A>G g.13817196A>G - - NDUFAF5_000019 - PubMed: Hershkovitsz 2021 - - Germline - - - - - DNA SEQ-NG - WES COXPD FamPatII2 PubMed: Hershkovitsz 2021 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives M yes Israel Arab;Christian 00y00m43d - - - 3 Johan den Dunnen
-?/. - c.1024A>G r.(?) p.(Lys342Glu) Parent #1 - benign g.13797842A>G g.13817196A>G - - NDUFAF5_000019 - PubMed: Hershkovitsz 2021 - - Germline - - - - - DNA SEQ-NG - WES COXPD FamPatII4 PubMed: Hershkovitsz 2021 sister F yes Israel Arab;Christian 7m - - - 1 Johan den Dunnen
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