All transcript variants in gene THRA

Information The variants shown are described using the NM_001190918.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

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     
?/. - c.767T>C VUS r.(?) p.(Met256Thr) g.38244538T>C - THRA:NM_003250.5:c.767T>C - THRA_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.1110+86dup likely pathogenic r.(=) p.(=) g.38245672dup - THRA:NM_199334,3:c.1196dup (Leu400fs) - THRA_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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