All variants in the ZFHX4 gene

Information The variants shown are described using the NM_024721.4 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.1223del r.(?) p.(Leu408ArgfsTer7) - VUS g.77617546del g.76705311del ZFHX4(NM_024721.4):c.1223del (p.(Leu408ArgfsTer7)) - ZFHX4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2335G>T r.(?) p.(Ala779Ser) - VUS g.77618658G>T g.76706423G>T ZFHX4(NM_024721.4):c.2335G>T (p.(Ala779Ser)) - ZFHX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3093+1G>T r.spl p.? - likely pathogenic (dominant) g.77620284G>T g.76708049G>T - - ZFHX4_000019 - - - - De novo - - - 0 - Monia Ginevrino
?/. - c.3319G>A r.(?) p.(Glu1107Lys) - VUS g.77690669G>A g.76778433G>A ZFHX4(NM_024721.4):c.3319G>A (p.E1107K) - ZFHX4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3387G>A r.(?) p.(Ser1129=) - benign g.77745635G>A g.76833399G>A ZFHX4(NM_024721.5):c.3387G>A (p.S1129=) - ZFHX4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.3646-1G>A r.spl p.? - pathogenic g.77761747G>A g.76849511G>A - - ZFHX4_000017 - PubMed: Eising 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.3777G>A r.(?) p.(Met1259Ile) - VUS g.77761879G>A g.76849643G>A ZFHX4(NM_024721.4):c.3777G>A (p.M1259I) - ZFHX4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4564C>T r.(?) p.(Pro1522Ser) - VUS g.77763721C>T g.76851485C>T ZFHX4(NM_024721.4):c.4564C>T (p.P1522S) - ZFHX4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5361C>T r.(?) p.(His1787=) - likely benign g.77764518C>T g.76852282C>T ZFHX4(NM_024721.4):c.5361C>T (p.H1787=) - ZFHX4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5656A>T r.(?) p.(Lys1886Ter) - VUS g.77764813A>T - ZFHX4(NM_024721.5):c.5656A>T (p.K1886*) - ZFHX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.6708C>T r.(?) p.(Tyr2236=) - benign g.77765865C>T g.76853629C>T ZFHX4(NM_024721.5):c.6708C>T (p.Y2236=) - ZFHX4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.8309C>T r.(?) p.(Pro2770Leu) - VUS g.77767466C>T - ZFHX4(NM_024721.4):c.8309C>T (p.P2770L) - ZFHX4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.9126_9130del r.(?) p.(Leu3043SerfsTer21) - VUS g.77768283_77768287del g.76856047_76856051del - - ZFHX4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.9701G>A r.(?) p.(Gly3234Asp) - VUS g.77775651G>A g.76863415G>A ZFHX4(NM_024721.4):c.9701G>A (p.G3234D) - ZFHX4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.10381G>A r.(?) p.(Ala3461Thr) - VUS g.77776331G>A g.76864095G>A ZFHX4(NM_024721.4):c.10381G>A (p.(Ala3461Thr)) - ZFHX4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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