Unique variants in gene PCDH19

Information The variants shown are described using the NM_020766.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ 1 c.142G>T p.(Glu48*) stop_gained - 1/5 - r.(?) - subst g.99663454C>A - 5.700 - PCDH19_000003 rs132630326 - ; clinvar; 19214208 - - LOVD
+/+ 1 c.253C>T p.(Gln85*) stop_gained - 1/5 - r.(?) - subst g.99663343G>A - 5.700 - PCDH19_000002 rs132630324 - ; clinvar; 18469813 - - LOVD
./. 1 c.1265_1266del p.(Thr422Asnfs*23) - - - - r.(?) - - g.99662330_99662331del - - - PCDH19_000006 - - ; clinvar; - - - LOVD
+/+ 1 c.1322T>A p.(Val441Glu) missense_variant - 1/5 probably_damaging(0.998) r.(?) deleterious(0) subst g.99662274A>T - 5.950 - PCDH19_000001 rs132630323 - ; clinvar; 18469813 - - LOVD
+/+ 1 c.1671C>G p.(Asn557Lys) missense_variant - 1/5 probably_damaging(0.999) r.(?) deleterious(0) subst g.99661925G>C - -1.150 - PCDH19_000004 rs267606933 - ; clinvar; 19752159 - - LOVD
+/+ 1 c.2012C>G p.(Ser671*) stop_gained - 1/5 - r.(?) - subst g.99661584G>C - 5.840 - PCDH19_000005 rs132630325 - ; clinvar; 18469813 - - LOVD
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