Unique variants in the AGTR2 gene

Information The variants shown are described using the NM_000686.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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 - c.-95-29G>A r.(=) p.(=) - likely benign g.115302192G>A g.116170939G>A AGTR2(NM_000686.5):c.-95-29G>A - AGTR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/., ?/. 4 - c.62G>T r.(?) p.(Gly21Val) - benign, likely benign, VUS g.115303595G>T g.116172342G>T AGTR2(NM_000686.4):c.62G>T (p.G21V, p.(Gly21Val)), AGTR2(NM_000686.5):c.62G>T (p.G21V) - AGTR2_000001 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.109C>G r.(?) p.(Gln37Glu) - likely benign g.115303642C>G g.116172389C>G AGTR2(NM_000686.4):c.109C>G (p.Q37E) - AGTR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.179T>C r.(?) p.(Leu60Pro) - likely benign g.115303712T>C - AGTR2(NM_000686.4):c.179T>C (p.L60P) - AGTR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.231G>T r.(?) p.(Lys77Asn) - likely benign g.115303764G>T g.116172511G>T AGTR2(NM_000686.4):c.231G>T (p.K77N) - AGTR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.324T>C r.(?) p.(Tyr108=) - likely benign g.115303857T>C - AGTR2(NM_000686.4):c.324T>C (p.Y108=) - AGTR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.374C>T r.(?) p.(Thr125Ile) - likely benign g.115303907C>T g.116172654C>T AGTR2(NM_000686.4):c.374C>T (p.T125I) - AGTR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.378G>A r.(?) p.(Leu126=) - likely benign g.115303911G>A - AGTR2(NM_000686.4):c.378G>A (p.L126=) - AGTR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.402dup r.(?) p.(Ile135TyrfsTer7) - VUS g.115303935dup g.116172682dup AGTR2(NM_000686.4):c.394_395insT (p.?) - AGTR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.411C>A r.(?) p.(Cys137Ter) - likely benign g.115303944C>A g.116172691C>A - - AGTR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.437T>C r.(?) p.(Val146Ala) - VUS g.115303970T>C g.116172717T>C - - AGTR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.474G>A r.(?) p.(Trp158Ter) - likely benign g.115304007G>A g.116172754G>A AGTR2(NM_000686.4):c.474G>A (p.W158*) - AGTR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.532A>G r.(?) p.(Thr178Ala) - VUS g.115304065A>G g.116172812A>G AGTR2(NM_000686.4):c.532A>G (p.T178A) - AGTR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.609A>G r.(?) p.(Lys203=) - likely benign g.115304142A>G - AGTR2(NM_000686.4):c.609A>G (p.K203=) - AGTR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.752G>A r.(?) p.(Arg251His) - likely benign g.115304285G>A g.116173032G>A AGTR2(NM_000686.4):c.752G>A (p.(Arg251His)) - AGTR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.930C>A r.(?) p.(Asn310Lys) - VUS g.115304463C>A - AGTR2(NM_000686.4):c.930C>A (p.(Asn310Lys)) - AGTR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.989G>C r.(?) p.(Arg330Pro) - VUS g.115304522G>C g.116173269G>C AGTR2(NM_000686.4):c.989G>C (p.R330P) - AGTR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1077G>A r.(?) p.(Glu359=) - likely benign g.115304610G>A g.116173357G>A AGTR2(NM_000686.4):c.1077G>A (p.E359=) - AGTR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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