Full data view for gene GPC6

Information The variants shown are described using the NM_005708.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.161-150016C>T r.(=) p.(=) Both (homozygous) - VUS g.94047500C>T g.93395247C>T - - GPC6_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.161-150016C>T r.(=) p.(=) Both (homozygous) - VUS g.94047500C>T g.93395247C>T - - GPC6_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.710A>G r.(?) p.(Lys237Arg) Unknown - likely benign g.94482797A>G g.93830544A>G GPC6(NM_005708.4):c.710A>G (p.K237R) - GPC6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878-33734A>C r.(=) p.(=) Both (homozygous) - VUS g.94904869A>C g.94252615A>C - - GPC6_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.1008+1G>C r.spl? p.? Unknown - pathogenic g.94938734G>C g.94286480G>C GPC6(NM_005708.4):c.1008+1G>C - GPC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1255G>A r.(?) p.(Glu419Lys) Unknown - VUS g.95034770G>A g.94382516G>A GPC6(NM_005708.3):c.1255G>A (p.(Glu419Lys)) - GPC6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1567G>A r.(?) p.(Asp523Asn) Unknown - likely benign g.95055370G>A g.94403116G>A GPC6(NM_005708.3):c.1567G>A (p.(Asp523Asn)) - GPC6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query