Full data view for gene HSPG2

Information The variants shown are described using the NM_005529.5 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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.3056C>T r.(?) p.(Pro1019Leu) Unknown - VUS g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3056C>T r.(?) p.(Pro1019Leu) Unknown - VUS g.22202483G>A g.21875990G>A - - HSPG2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.3056C>T r.(?) p.(Pro1019Leu) Unknown - likely benign g.22202483G>A g.21875990G>A HSPG2(NM_005529.5):c.3056C>T (p.(Pro1019Leu)) - HSPG2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.12238G>A r.(?) p.(Val4080Met) Unknown - likely pathogenic g.38146420T>C g.38287167T>C c.1832A>G; p.Asn611Ser - HSPG2_000001 Known high myopia gene; heterozygous variant PubMed: Wan 2018 - rs774982456 Unknown ? - - 0 - DNA SEQ-NG-I blood Whole-exome sequencing retinal disease R0023 PubMed: Wan 2018 - ? - China Han Chinese - 0 - - 1 LOVD
Legend   How to query