Full data view for gene NDUFA9

Information The variants shown are described using the NM_005002.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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     

Treatment     

Panel size     

Owner     
-/. - c.13G>C r.(?) p.(Ala5Pro) Unknown - benign g.4758305G>C g.4649139G>C NDUFA9(NM_005002.5):c.13G>C (p.A5P) - NDUFA9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68T>C r.(?) p.(Ile23Thr) Unknown - VUS g.4763476T>C g.4654310T>C NDUFA9(NM_005002.4):c.68T>C (p.(Ile23Thr)) - NDUFA9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.87C>T r.(?) p.(His29=) Unknown - likely benign g.4763495C>T g.4654329C>T NDUFA9(NM_005002.4):c.87C>T (p.H29=) - NDUFA9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223C>T r.(?) p.(Arg75Cys) Unknown - VUS g.4763993C>T g.4654827C>T NDUFA9(NM_005002.4):c.223C>T (p.R75C) - NDUFA9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224G>A r.(?) p.(Arg75His) Parent #1 - VUS g.4763994G>A g.4654828G>A - - NDUFA9_000012 conflicting interpretations of pathogenicity; 41 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35263902 Germline - 41/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 41 Mohammed Faruq
?/. - c.253C>T r.(?) p.(Arg85Trp) Parent #1 - VUS g.4764023C>T g.4654857C>T - - NDUFA9_000013 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs71579253 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.349C>T r.(?) p.(Arg117Ter) Unknown - pathogenic g.4766944C>T g.4657778C>T NDUFA9(NM_005002.4):c.349C>T (p.R117*) - NDUFA9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.411-9A>T r.(=) p.(=) Unknown - benign g.4768193A>T g.4659027A>T NDUFA9(NM_005002.5):c.411-9A>T - NDUFA9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Pro149=) Unknown - likely benign g.4768238C>T - NDUFA9(NM_005002.4):c.447C>T (p.P149=) - NDUFA9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.515C>T r.(?) p.(Ala172Val) Unknown - VUS g.4768306C>T - NDUFA9(NM_005002.5):c.515C>T (p.(Ala172Val)) - NDUFA9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.552+4A>G r.spl? p.? Unknown - VUS g.4768347A>G - NDUFA9(NM_005002.5):c.552+4A>G - NDUFA9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552+5G>A r.spl? p.? Unknown - likely benign g.4768348G>A - NDUFA9(NM_005002.5):c.552+5G>A - NDUFA9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.552+11A>C r.(=) p.(=) Unknown - benign g.4768354A>C g.4659188A>C NDUFA9(NM_005002.5):c.552+11A>C - NDUFA9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553-17G>A r.(=) p.(=) Unknown - benign g.4771682G>A g.4662516G>A NDUFA9(NM_005002.5):c.553-17G>A - NDUFA9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.766C>A r.(?) p.(Pro256Thr) Unknown - VUS g.4778949C>A - NDUFA9(NM_005002.5):c.766C>A (p.(Pro256Thr)) - NDUFA9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850G>A r.(?) p.(Ala284Thr) Unknown - likely benign g.4791420G>A - NDUFA9(NM_005002.4):c.850G>A (p.A284T) - NDUFA9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.881C>T r.(?) p.(Pro294Leu) Parent #1 - likely benign g.4791451C>T g.4682285C>T - - NDUFA9_000008 38 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34076756 Germline - 38/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 38 Mohammed Faruq
-?/. - c.881C>T r.(?) p.(Pro294Leu) Both (homozygous) - likely benign g.4791451C>T g.4682285C>T - - NDUFA9_000008 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34076756 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.897-74A>G r.(=) p.(=) Unknown - benign g.4794351A>G g.4685185A>G NDUFA9(NM_005002.5):c.897-74A>G - NDUFA9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.942A>G r.(?) p.(Ile314Met) Unknown - likely benign g.4794470A>G g.4685304A>G NDUFA9(NM_005002.5):c.942A>G (p.I314M) - NDUFA9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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