Unique variants in the AGTR1 gene

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/? 1 4 c.110dupT r.(?) p.(Ile38Hisfs*37) - pathogenic g.148458932dup g.148741145dup 110_111insT - AGTR1_000002 - PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
+/? 2 4 c.251G>A r.(?) p.(Trp84*) - pathogenic g.148459073G>A g.148741286G>A - - AGTR1_000004 - PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
?/. 1 - c.308T>C r.(?) p.(Leu103Ser) - VUS g.148459130T>C g.148741343T>C - - AGTR1_000012 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145708722 Germline - 5/2792 individuals - - - Mohammed Faruq
+/? 2 4 c.376C>T r.(?) p.(Arg126*) - pathogenic g.148459198C>T g.148741411C>T - - AGTR1_000001 - PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 1 4 c.845C>T r.(?) p.(Thr282Met) - pathogenic g.148459667C>T g.148741880C>T - - AGTR1_000003 - PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
-/. 2 - c.1062A>G - - - benign g.148459884A>G g.148742097A>G - - AGTR1_000010 200 heterozygous; Clinindb (India), 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5183 Germline - 200/2794 individuals, 4/2794 individuals - - - Mohammed Faruq
+?/. 1 4 c.*86A>C r.(=) p.(=) - likely pathogenic g.148459988A>C g.148742201A>C 1166A>C - AGTR1_000005 variant associates with hypertension PubMed: Bonnardeaux 1994, OMIM:var0001 - rs5186 Germline - - - - - Johan den Dunnen
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