Full data view for gene SLC29A3

Information The variants shown are described using the NM_018344.5 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Molho-Pessach 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Cliffe 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Morgan 2010 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Paternal (confirmed) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Morgan 2010 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg Both (homozygous) - likely pathogenic g.73122246G>A g.71362489G>A - - SLC29A3_000001 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Priya 2010 - - - - - - 0 - - 1 Johan den Dunnen
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