Unique variants in the NDUFA7 gene

Information The variants shown are described using the NM_005001.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.-173T>C r.(=) p.(=) - pathogenic (dominant) g.8386415A>G g.8321531A>G - - NDUFA7_000001 - PubMed: Ulirsch 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.*6468_*6470del r.(=) p.(=) - benign g.8369925_8369927del - CD320(NM_016579.3):c.262_264delGAG (p.E88del) - CD320_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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