Full data view for 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     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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