Full data view for gene AGR2

Information The variants shown are described using the NM_006408.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. _1_7i cc.-187_(478+104_479-1){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_16834456)_(16918247_?)del g.(?_16794832)_(16878623_?)del del ex1-7 16834456-16918247 - AGR2_000003 - PubMed: Bertoli-Avella 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CF Fam6PatIII1 PubMed: Bertoli-Avella 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Oman - - - - - 1 Johan den Dunnen
?/. - c.173A>G r.(?) p.(Tyr58Cys) Unknown - VUS g.16840974T>C - AGR2(NM_006408.4):c.173A>G (p.Y58C) - AGR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.211C>A r.(?) p.(Pro71Thr) Both (homozygous) - pathogenic (recessive) g.16840820G>T g.16801196G>T - - AGR2_000007 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam1PatIV1 PubMed: Bertoli-Avella 2022 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Oman - - - - - 4 Johan den Dunnen
+/. 4 c.211C>A r.(?) p.(Pro71Thr) Both (homozygous) - pathogenic (recessive) g.16840820G>T g.16801196G>T - - AGR2_000007 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam1PatIV2 PubMed: Bertoli-Avella 2022 cousin F yes Oman - - - - - 1 Johan den Dunnen
+/. 4 c.211C>A r.(?) p.(Pro71Thr) Both (homozygous) - pathogenic (recessive) g.16840820G>T g.16801196G>T - - AGR2_000007 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam1PatIV4 PubMed: Bertoli-Avella 2022 cousin F yes Oman - - - - - 1 Johan den Dunnen
+/. 5i c.330+1del r.spl p.? Both (homozygous) - pathogenic (recessive) g.16839367del g.16799743del - - AGR2_000006 - PubMed: Bertoli-Avella 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CF Fam8 PubMed: Bertoli-Avella 2022 2-generation family, 1 affected, adopted M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 5i c.330+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.16839367C>A g.16799743C>A - - AGR2_000005 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam5PatII1 PubMed: Bertoli-Avella 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - 2 Johan den Dunnen
+/. 5i c.330+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.16839367C>A g.16799743C>A - - AGR2_000005 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam5PatII2 PubMed: Bertoli-Avella 2022 brother M yes Egypt - - - - - 1 Johan den Dunnen
?/. 6 c.349C>T r.(?) p.(His117Tyr) Both (homozygous) - likely pathogenic (recessive) g.16837300G>A g.16797676G>A - - AGR2_000001 - - - rs780638101 Germline - 1/250928 (gnomADeALL) - - - DNA SEQ-NG-I blood WES IBD - - 2 Generation Family, 2 affected (1M, 1F), unaffected parents heterozygous carrier F yes - - 05y - yes - 2 Christina Rapp
+/. 6 c.349C>T r.(?) p.(His117Tyr) Both (homozygous) - pathogenic (recessive) g.16837300G>A g.16797676G>A - - AGR2_000001 - PubMed: Bertoli-Avella 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CF Fam2PatIII1 PubMed: Bertoli-Avella 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Bahrain Syria - - - - 1 Johan den Dunnen
+/. 6 c.349C>T r.(?) p.(His117Tyr) Both (homozygous) - pathogenic (recessive) g.16837300G>A g.16797676G>A - - AGR2_000001 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam3PatIV1 PubMed: Bertoli-Avella 2022 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Iraq - - - - - 3 Johan den Dunnen
+/. 6 c.349C>T r.(?) p.(His117Tyr) Both (homozygous) - pathogenic (recessive) g.16837300G>A g.16797676G>A - - AGR2_000001 - PubMed: Bertoli-Avella 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CF Fam4PatII1 PubMed: Bertoli-Avella 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Bahrain Syria - - - - 1 Johan den Dunnen
+/. 6 c.349C>T r.(?) p.(His117Tyr) Both (homozygous) - pathogenic (recessive) g.16837300G>A g.16797676G>A - - AGR2_000001 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam7b PubMed: Bertoli-Avella 2022 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - 4 Johan den Dunnen
+/. 6 c.349C>T r.(?) p.(His117Tyr) Both (homozygous) - pathogenic (recessive) g.16837300G>A g.16797676G>A - - AGR2_000001 - PubMed: Bertoli-Avella 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CF Fam7s PubMed: Bertoli-Avella 2022 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 7 c.428G>A r.(?) p.(Gly143Glu) Both (homozygous) - pathogenic (recessive) g.16834610C>T g.16794986C>T - - AGR2_000004 - PubMed: Bertoli-Avella 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CF Fam9 PubMed: Bertoli-Avella 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 1 Johan den Dunnen
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