All variants in the NDUFA2 gene

Information The variants shown are described using the NM_002488.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     
./. - c.-5690117_*16196648dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
-?/. - c.31G>C r.(?) p.(Gly11Arg) - likely benign g.140027138C>G g.140647553C>G NDUFA2(NM_001185012.1):c.31G>C (p.G11R) - IK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.218_219del r.(?) p.(Gln73ArgfsTer12) - likely pathogenic g.140025253_140025254del - NDUFA2(NM_002488.4):c.218_219delAA (p.Q73Rfs*12) - IK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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