Full data view for gene PAX8

Information The variants shown are described using the NM_003466.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.398G>A pathogenic r.(?) p.(Arg133Gln) Unknown g.114000347C>T - PAX8:c.398G>A (R133Q) - PAX8_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.479-6C>T benign r.(=) p.(=) Unknown g.113999713G>A - PAX8:c.479-6C>T - PAX8_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.777+652_777+653del - - p.(=) Both (homozygous) g.113998475_113998476del g.113240898_113240899del - - PAX8_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.899-10C>T benign r.(=) p.(=) Unknown g.113993169G>A - PAX8:c.899-10C>T - PAX8_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.985T>C benign r.(?) p.(Phe329Leu) Unknown g.113993073A>G - PAX8:c.985T>C (F329L) - PAX8_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.985T>C benign r.(?) p.(Phe329Leu) Unknown g.113993073A>G - PAX8:c.985T>C (F329L) - PAX8_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1087+4C>T benign r.spl? p.? Unknown g.113992967G>A - PAX8:c.1087+4C>T - PAX8_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1317A>G benign r.(=) p.(=) Unknown g.113976146T>C - PAX8:c.1317A>G (=) - PAX8_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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