Full data view for gene SLC29A3

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

3 entries on 1 page. Showing entries 1 - 3.
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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.1346C>G r.(?) p.Thr449Arg Both (homozygous) - pathogenic g.73122283C>G g.71362526C>G - - SLC29A3_000007 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Cliffe 2009 - - - - - - 0 - - 1 Johan den Dunnen
?/? 6 c.1346C>G r.(?) p.Thr449Arg Both (homozygous) - VUS g.73122283C>G g.71362526C>G - - SLC29A3_000007 - - - - Germline - - - 0 - DNA SEQ - - HLPS - PubMed: Campeau - F yes - - - 0 - - 1 Philippe Campeau
+/. - c.1346C>G r.(?) p.(Thr449Arg) Parent #1 - pathogenic g.73122283C>G g.71362526C>G - - SLC29A3_000007 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267607058 Germline - 2/2788 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
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