All variants in the STAT4 gene

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

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.125A>G r.(?) p.(Asp42Gly) - VUS g.192012805T>C - STAT4(NM_003151.3):c.125A>G (p.D42G) - STAT4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.274-4dup r.spl? p.? - benign g.191941064dup - STAT4(NM_003151.3):c.274-4dupT - STAT4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.383A>T r.(?) p.(Glu128Val) - VUS g.191937906T>A g.191073180T>A STAT4(NM_003151.3):c.383A>T (p.E128V) - STAT4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.456C>T r.(?) p.(Asn152=) - likely benign g.191937833G>A g.191073107G>A STAT4(NM_003151.3):c.456C>T (p.N152=) - STAT4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.545-8del r.(=) p.(=) - likely benign g.191931250del g.191066524del STAT4(NM_003151.3):c.545-8delC - STAT4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.654A>G r.(?) p.(Gln218=) - likely benign g.191929661T>C g.191064935T>C STAT4(NM_003151.3):c.654A>G (p.Q218=) - STAT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.719G>A r.(?) p.(Arg240Gln) - VUS g.191929596C>T g.191064870C>T STAT4(NM_003151.3):c.719G>A (p.R240Q) - STAT4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.782+7C>G r.(=) p.(=) - likely benign g.191929526G>C g.191064800G>C STAT4(NM_003151.3):c.782+7C>G - STAT4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.816G>A r.(?) p.(Leu272=) - likely benign g.191927613C>T - STAT4(NM_003151.3):c.816G>A (p.L272=) - STAT4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1337C>T r.(?) p.(Thr446Ile) - VUS g.191904022G>A g.191039296G>A STAT4(NM_003151.3):c.1337C>T (p.T446I) - STAT4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1338C>A r.(?) p.(Thr446=) - likely benign g.191904021G>T g.191039295G>T STAT4(NM_003151.3):c.1338C>A (p.T446=) - STAT4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1338C>A r.(?) p.(Thr446=) - benign g.191904021G>T g.191039295G>T STAT4(NM_003151.3):c.1338C>A (p.T446=) - STAT4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1368T>C r.(?) p.(Asn456=) - likely benign g.191903991A>G - STAT4(NM_003151.3):c.1368T>C (p.N456=) - STAT4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1476T>C r.(?) p.(Ser492=) - likely benign g.191900984A>G g.191036258A>G STAT4(NM_003151.3):c.1476T>C (p.S492=) - STAT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1476T>C r.(?) p.(Ser492=) - likely benign g.191900984A>G g.191036258A>G STAT4(NM_003151.3):c.1476T>C (p.S492=) - STAT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1620+12C>T r.(=) p.(=) - likely benign g.191899262G>A g.191034536G>A STAT4(NM_003151.3):c.1620+12C>T - STAT4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1718A>G r.(?) p.(Tyr573Cys) - likely benign g.191898350T>C g.191033624T>C STAT4(NM_003151.3):c.1718A>G (p.Y573C) - STAT4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1807C>T r.(?) p.(His603Tyr) - VUS g.191898261G>A g.191033535G>A STAT4(NM_003151.3):c.1807C>T (p.H603Y) - STAT4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1995T>C r.(?) p.(Ile665=) - likely benign g.191897733A>G g.191033007A>G STAT4(NM_003151.3):c.1995T>C (p.I665=) - STAT4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2009C>G r.(?) p.(Ala670Gly) - VUS g.191897719G>C - STAT4(NM_003151.3):c.2009C>G (p.A670G) - STAT4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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