Full data view for gene APRT

Information The variants shown are described using the NM_000485.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/. - c.294G>A r.294g>a p.Trp98* Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - APRTD WR15 PubMed: Mimori 1991 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - - - DNA SEQ - - APRTD WR10 PubMed: Mimori 1991 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - - - DNA SEQ - - APRTD WR128 PubMed: Mimori 1991 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - - - DNA SEQ - - APRTD WR158 PubMed: Mimori 1991 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1449/1450G>A - APRT_000041 - PubMed: Sahota 1990 - - Germline - - - - - DNA SEQ - - APRTD ASA1 PubMed: Sahota 1990 - M yes Japan - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic (recessive) g.88876858C>T g.88810450C>T - - APRT_000041 - PubMed: Sahota 1990 - - Germline - - - - - DNA SEQ - - APRTD TAK2 PubMed: Sahota 1990 - M no Japan - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #2 - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Kamatani 1992 - - Germline - - - - - DNA ASO - - APRTD - PubMed: Kamatani 1992 7 unrelated cases - - Japan - - - - - 7 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Kamatani 1992 - - Germline - - - - - DNA ASO - - APRTD - PubMed: Kamatani 1992 11 unrelated cases - - Japan - - - - - 11 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Kamatani 1992 - - Germline - - - - - DNA ASO, Southern - - APRTD - PubMed: Kamatani 1992 - - - - - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic (recessive) g.88876858C>T g.88810450C>T 1409G>A - APRT_000041 - PubMed: Taniguchi 2004 - - Germline - - - - - DNA SEQ - - APRTD PatC PubMed: Taniguchi 2004 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Nanmoku 2017 - - Germline - - - - - DNA SEQ - - APRTD patient PubMed: Nanmoku 2017 - M - Japan - - - - - 1 Johan den Dunnen
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