Unique variants in gene NDUFS6

Information The variants shown are described using the NM_004553.4 transcript reference sequence.

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

Reported     

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 i c.187-53_187-50del - r.(=) p.(=) g.1814400_1814403del g.1814286_1814289del 187-57_187-54delTGTA - NDUFS6_000001 - PubMed: Jang 2015, Journal: Jang 2015 - rs36074605 Germline - - - - - Johan den Dunnen
-/. 1 - c.309+208T>C benign r.(=) p.(=) g.1814783T>C - NDUFS6(NM_004553.4):c.309+208T>C - NDUFS6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.316_319del - r.(?) p.(Glu106Glnfs*41) g.1815971_1815974del g.1815857_1815860del 313_315delAAAG - NDUFS6_000003 moderate genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Johan den Dunnen
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