Full data view for gene HYLS1

Information The variants shown are described using the NM_145014.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

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Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

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Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 05 c.632A>G - r.632a>g p.Asp211Gly Unknown g.125769895A>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 - - - - - - - - - - - - - - - - - - -
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