Full data view for gene AQP2

Information The variants shown are described using the NM_000486.5 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+/+ 1i_3i c.(360+1_361-1)_(606+1_607-1))del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(50345206_50347938)_(50349021_50350298)del - arr hg19 12q13.12 [50312742-503163365]x1 - AQP2_000014 3.626 kb deletion; not found in 5 control samples PubMed: Peces 2019 - - Germline yes - - - - DNA SEQ PBL - diabetes FamPatII2 PubMed: Peces 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no (Spain) - - - - - 1 Mary Fujiwara
?/. - c.31A>G r.(?) p.(Arg11Gly) Unknown - VUS g.50344644A>G - AQP2(NM_000486.6):c.31A>G (p.(Arg11Gly)) - AQP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39G>A r.(?) p.(Val13=) Unknown - likely benign g.50344652G>A g.49950869G>A AQP2(NM_000486.5):c.39G>A (p.V13=) - AQP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140C>T r.(?) p.(Ala47Val) Unknown - pathogenic g.50344753C>T g.49950970C>T - - AQP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.202A>T r.(?) p.(Asn68Tyr) Parent #1 - likely pathogenic (recessive) g.50344815A>T - - - AQP2_000017 - - - - Germline - - - - - DNA SEQ-NG - - ? 44 - - M - China - - - - - 1 Sha Hong
+/. - c.211G>A r.(?) p.(Val71Met) Unknown - pathogenic g.50344824G>A g.49951041G>A AQP2(NM_000486.6):c.211G>A (p.(Val71Met)) - AQP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.211G>A r.(?) p.(Val71Met) Unknown - pathogenic g.50344824G>A - AQP2(NM_000486.6):c.211G>A (p.(Val71Met)) - AQP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292G>T r.(?) p.(Val98Leu) Unknown - VUS g.50344905G>T - AQP2(NM_000486.6):c.292G>T (p.(Val98Leu)) - AQP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.360+3G>A r.spl? p.? Unknown - benign g.50344976G>A g.49951193G>A AQP2(NM_000486.5):c.360+3G>A, AQP2(NM_000486.6):c.360+3G>A - AQP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.360+3G>A r.spl? p.? Unknown - benign g.50344976G>A g.49951193G>A AQP2(NM_000486.5):c.360+3G>A, AQP2(NM_000486.6):c.360+3G>A - AQP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.360+3G>A r.spl? p.? Unknown - benign g.50344976G>A g.49951193G>A AQP2(NM_000486.5):c.360+3G>A, AQP2(NM_000486.6):c.360+3G>A - AQP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.374C>T r.(?) p.(Thr125Met) Paternal (confirmed) - pathogenic (recessive) g.50347951C>T g.49954168C>T - - AQP2_000013 - PubMed: Peces 2019 - - Germline yes - - - - DNA SEQ PBL - diabetes FamPatII2 PubMed: Peces 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no (Spain) - - - - - 1 Mary Fujiwara
+/. - c.374C>T r.(?) p.(Thr125Met) Unknown - pathogenic g.50347951C>T - AQP2(NM_000486.5):c.374C>T (p.T125M) - AQP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377C>T r.(?) p.(Thr126Met) Unknown - pathogenic g.50347954C>T g.49954171C>T - - AQP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.454C>T r.(?) p.(Arg152Cys) Parent #2 - likely pathogenic (recessive) g.50348031C>T - - - AQP2_000018 - - - - Germline - - - - - DNA SEQ-NG - - ? 44 - - M - China - - - - - 1 Sha Hong
?/. - c.460G>A r.(?) p.(Gly154Arg) Unknown - VUS g.50348037G>A - AQP2(NM_000486.6):c.460G>A (p.(Gly154Arg)) - AQP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.501= r.(=) p.(Ser167=) Unknown - benign g.50348078T>C g.49954295T>C AQP2(NM_000486.5):c.501T>C (p.S167=), AQP2(NM_000486.6):c.501T>C (p.S167=) - AQP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.501= r.(=) p.(Ser167=) Unknown - benign g.50348078T>C g.49954295T>C AQP2(NM_000486.5):c.501T>C (p.S167=), AQP2(NM_000486.6):c.501T>C (p.S167=) - AQP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.518T>A r.(?) p.(Leu173His) Unknown - likely pathogenic g.50348095T>A g.49954312T>A - - AQP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.538G>A r.(?) p.(Gly180Ser) Unknown - likely pathogenic g.50348425G>A g.49954642G>A - - AQP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.559C>T r.(?) p.(Arg187Cys) Unknown - pathogenic g.50348446C>T g.49954663C>T AQP2(NM_000486.5):c.559C>T (p.R187C) - AQP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.559C>T r.(?) p.(Arg187Cys) Unknown - pathogenic g.50348446C>T - AQP2(NM_000486.5):c.559C>T (p.R187C) - AQP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.646T>C r.(?) p.(Ser216Pro) Unknown - likely pathogenic g.50349221T>C - - - AQP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.761G>T r.(?) p.(Arg254Leu) Unknown - likely pathogenic g.50349336G>T - AQP2(NM_000486.5):c.761G>T (p.R254L) - AQP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.763C>T r.(?) p.(Gln255Ter) Unknown - pathogenic g.50349338C>T g.49955555C>T - - AQP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1228T>G r.(=) p.(=) Parent #1 - likely benign g.50350619T>G g.49956836T>G - - AQP2_000016 217 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77904078 Germline - 217/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 217 Mohammed Faruq
-?/. - c.*1228T>G r.(=) p.(=) Both (homozygous) - likely benign g.50350619T>G g.49956836T>G - - AQP2_000016 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77904078 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.*6520G>A r.(=) p.(=) Unknown - likely benign g.50355911G>A - AQP5(NM_001651.3):c.111G>A (p.S37=) - AQP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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