Unique variants in gene STAT4

Information The variants shown are described using the NM_003151.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.383A>T VUS r.(?) p.(Glu128Val) g.191937906T>A - STAT4(NM_003151.3):c.383A>T (p.E128V) - STAT4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.456C>T likely benign r.(?) p.(=) g.191937833G>A - STAT4(NM_003151.3):c.456C>T (p.N152=) - STAT4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.545-8del likely benign r.(=) p.(=) g.191931250del - STAT4(NM_003151.3):c.545-8delC - STAT4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.654A>G likely benign r.(?) p.(=) g.191929661T>C - STAT4(NM_003151.3):c.654A>G (p.Q218=) - STAT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.719G>A VUS r.(?) p.(Arg240Gln) g.191929596C>T - STAT4(NM_003151.3):c.719G>A (p.R240Q) - STAT4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1337C>T VUS r.(?) p.(Thr446Ile) g.191904022G>A - STAT4(NM_003151.3):c.1337C>T (p.T446I) - STAT4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.1338C>A likely benign, benign r.(?) p.(=) g.191904021G>T - STAT4(NM_003151.3):c.1338C>A (p.T446=) - STAT4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.1476T>C likely benign r.(?) p.(=) g.191900984A>G - STAT4(NM_003151.3):c.1476T>C (p.S492=) - STAT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1620+12C>T likely benign r.(=) p.(=) g.191899262G>A - STAT4(NM_003151.3):c.1620+12C>T - STAT4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1718A>G likely benign r.(?) p.(Tyr573Cys) g.191898350T>C - STAT4(NM_003151.3):c.1718A>G (p.Y573C) - STAT4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1807C>T VUS r.(?) p.(His603Tyr) g.191898261G>A - STAT4(NM_003151.3):c.1807C>T (p.H603Y) - STAT4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1995T>C likely benign r.(?) p.(=) g.191897733A>G - STAT4(NM_003151.3):c.1995T>C (p.I665=) - STAT4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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