Full data view for gene HYLS1

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

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.91T>C benign r.(?) p.(Cys31Arg) Unknown g.125769354T>C - PUS3:c.-46-3129A>G - HYLS1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 05 c.632A>G - r.632a>g p.Asp211Gly Unknown g.125769895A>G g.125900000A>G D211G - HYLS1_000001 Finnish HLS1 Founder mutation: More than 64 Finnish cases (hom) with HLS1 PubMed: Mee et al. 2005, PubMed: Paetau et al. 2008 - rs104894232 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
Legend