Unique variants in gene UQCRC2

Information The variants shown are described using the NM_003366.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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 - c.-434538_*7337753del - r.0? p.0? g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-116141_*433872del - r.0? p.0? g.21848604_22428364del g.21837283_22417043del - - UQCRC2_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-48732_*433872del - r.0? p.0? g.21916013_22428364del g.21904692_22417043del - - UQCRC2_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.140T>G VUS r.(?) p.(Leu47Trp) g.21968760T>G - UQCRC2(NM_003366.3):c.140T>G (p.L47W) - UQCRC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 7 c.547C>T pathogenic (recessive) r.(?) p.(Arg183Trp) g.21976761C>T g.21965440C>T - - UQCRC2_000001 - PubMed: Miyake 2013, Journal: Miyake 2013, OMIM:var0001, PubMed: Gaignard 2017 - - Germline yes - - - - Noriko Miyake, Johan den Dunnen
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