Full data view for gene AQP4

Information The variants shown are described using the NM_001650.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-277060G>A r.(?) p.(=) Unknown - VUS g.24722713C>T g.27142749C>T CHST9(NM_031422.5):c.61G>A (p.G21R) - CHST9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-51502G>A r.(?) p.(=) Unknown - VUS g.24497155C>T - CHST9(NM_031422.6):c.400G>A (p.(Glu134Lys)) - AQP4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-51291C>G r.(?) p.(=) Unknown - VUS g.24496944G>C - CHST9(NM_031422.6):c.611C>G (p.(Ser204Cys)) - AQP4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.265G>A r.(?) p.(Gly89Ser) Unknown - VUS g.24442328C>T - AQP4(NM_001650.7):c.265G>A (p.(Gly89Ser)) - AQP4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.643G>A r.(?) p.(Ala215Thr) Both (homozygous) - pathogenic (recessive) g.24440786C>T g.26860822C>T - - AQP4_000001 - PubMed: Passchier 2023 - rs148498248 Germline - - - - - DNA arraySNP, SEQ - genes screened MLC1, GLIALCAM, GPRC5B, AQP4 MLC Fam4Pat4-EL788 PubMed: Passchier 2023 2-generation family, 2 affected sibs, unaffected heterozygous parents M yes - - - - - - 1 Rogier Min
+/. 4 c.643G>A r.(?) p.(Ala215Thr) Both (homozygous) - pathogenic (recessive) g.24440786C>T g.26860822C>T - - AQP4_000001 - PubMed: Passchier 2023 - rs148498248 Germline - - - - - DNA arraySNP, SEQ - genes screened MLC1, GLIALCAM, GPRC5B, AQP4 MLC Fam4Pat5-EL950 PubMed: Passchier 2023 sib F yes - - - - - - 1 Rogier Min
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