All transcript variants in gene PIGQ

Information The variants shown are described using the NM_004204.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

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     
?/. - c.551del VUS r.(?) p.(Gly184Alafs*5) g.624625del - PIGQ(NM_004204.3):c.551delG (p.G184Afs*5) - PIGQ_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+? - c.619C>T - r.(?) p.(Arg207*) g.624693C>T - - - PIGQ_000003 - PubMed: Alazami et al. 2015 - - De novo - - - 0 - Philippe Campeau
./. 2 c.690-2A>G - r.spl? p.? g.625837A>G g.575837A>G - - PIGQ_000001 Patient deceased but deletion of exon 3 detected in some RNA species in parental blood, consistent with predicted exon skipping effect of variant. PubMed: Martin HC et al 2014 - - Germline yes - - 0 - Philippe Campeau
-/. - c.849G>T benign r.(?) p.(=) g.626161G>T - PIGQ(NM_004204.3):c.849G>T (p.L283=) - PIGQ_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.925C>G VUS r.(?) p.(Leu309Val) g.626237C>G - PIGQ(NM_004204.3):c.925C>G (p.L309V) - PIGQ_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1209C>T likely benign r.(?) p.(=) g.628924C>T - PIGQ(NM_004204.3):c.1209C>T (p.Y403=) - PIGQ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1416+7T>C likely benign r.(=) p.(=) g.630270T>C - PIGQ(NM_004204.3):c.1416+7T>C (p.(=)) - PIGQ_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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