Unique variants in gene PAX8

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.398G>A pathogenic r.(?) p.(Arg133Gln) g.114000347C>T - PAX8:c.398G>A (R133Q) - PAX8_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.479-6C>T benign r.(=) p.(=) g.113999713G>A - PAX8:c.479-6C>T - PAX8_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.777+652_777+653del - - p.(=) g.113998475_113998476del g.113240898_113240899del - - PAX8_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.899-10C>T benign r.(=) p.(=) g.113993169G>A - PAX8:c.899-10C>T - PAX8_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.985T>C benign r.(?) p.(Phe329Leu) g.113993073A>G - PAX8:c.985T>C (F329L) - PAX8_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.1087+4C>T benign r.spl? p.? g.113992967G>A - PAX8:c.1087+4C>T - PAX8_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1317A>G benign r.(=) p.(=) g.113976146T>C - PAX8:c.1317A>G (=) - PAX8_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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