Full data view for gene SLCO2A1

Information The variants shown are described using the NM_005630.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 5 c.664G>A r.(?) p.(Gly222Arg) Paternal (confirmed) - pathogenic g.133672567C>T g.133953723C>T - - SLCO2A1_000007 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - PHOAR2 - PubMed: Zhang 2012 3-generation family, 1 affected, carrier parents M - China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 5 c.664G>A r.(?) p.(Gly222Arg) Parent #1 - pathogenic g.133672567C>T g.133953723C>T - - SLCO2A1_000007 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Zhang 2012 unaffected father 22197487-Fam3-III1 M - China Chinese, Han - 0 - - 1 Johan den Dunnen
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