Unique variants in gene TSHB

Information The variants shown are described using the NM_000549.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
-/. 2 - c.40A>G benign r.(?) p.(Thr14Ala) g.115576023A>G - TSHB(NM_000549.4):c.40A>G (p.T14A) - TSHB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
+/. 1 - c.373del pathogenic r.(?) p.(Cys125Valfs*10) g.115576804del - TSHB(NM_000549.4):c.373delT (p.C125Vfs*10) - TSHB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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