Transcript #00023072

Transcript name transcript variant 1
Gene name ZC4H2 (zinc finger, C4H2 domain containing)
Chromosome X
Transcript - NCBI ID NM_018684.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_061154.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

49 entries on 1 page. Showing entries 1 - 49.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0?
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0?
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0?
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0?
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0?
+/. _1_1i_ c.-156_(53+1_?)inv pathogenic (recessive) r.0 p.0
+/. _1_5_ c.0 pathogenic (recessive) r.0 p.0
+/. _1_5_ c.0 pathogenic (recessive) r.0 p.0
+/. - c.67C>T pathogenic (recessive) r.(?) p.(Gln23*)
+?/. - c.161T>C likely pathogenic r.(?) p.(Leu54Pro)
+/. 2 c.187G>C pathogenic (recessive) r.(?) p.(Val63Leu)
+/. - c.199C>T pathogenic (recessive) r.(?) p.(Arg67*)
+/. - c.199C>T pathogenic r.(?) p.(Arg67*)
+/. - c.210C>A pathogenic r.(?) p.(His70Gln)
+/. - c.210C>A pathogenic r.(?) p.(His70Gln)
?/. - c.223G>A VUS r.(?) p.(Val75Met)
-?/. - c.223G>A likely benign r.(?) p.(Val75Met)
+/. - c.225+2T>C pathogenic (recessive) r.spl p.?
+/. - c.226-2A>G pathogenic r.spl? p.?
+/. - c.226-1G>T pathogenic (recessive) r.spl p.?
+/. - c.243_246del pathogenic (recessive) r.(?) p.(Lys81Asnfs*6)
+/. - c.275_276del pathogenic (recessive) r.(?) p.(Glu92Valfs*7)
?/. - c.374A>G VUS r.(?) p.(Glu125Gly)
+/. - c.426G>A pathogenic (recessive) r.(?) p.(Trp142*)
+/. - c.451del pathogenic (recessive) r.(?) p.(Ile151Serfs*36)
?/. - c.547C>A VUS r.(?) p.(Pro183Thr)
+/. - c.592C>T pathogenic r.(?) p.(Arg198Trp)
+?/. - c.592C>T likely pathogenic r.(?) p.(Arg198Trp)
+?/. - c.593G>A likely pathogenic r.(?) p.(Arg198Gln)
+/. - c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln)
+/. - c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln)
+/. 5 c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln)
+/. 5 c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln)
+?/. - c.598G>A likely pathogenic r.(?) p.(Ala200Thr)
+/. - c.598G>A pathogenic (recessive) r.(?) p.(Ala200Thr)
+/. - c.599C>T pathogenic (recessive) r.(?) p.(Ala200Val)
+/. - c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser)
+/. 5 c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser)
+/. 5 c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser)
+/. - c.602C>A pathogenic (recessive) r.(?) p.(Pro201His)
+/. - c.607T>A pathogenic (recessive) r.(?) p.(Cys203Ser)
+/. - c.617G>T pathogenic (recessive) r.(?) p.(Cys206Phe)
+/. 5 c.637C>T pathogenic r.(?) p.(Arg213Trp)
+/. - c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp)
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp)
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp)
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp)
?/. 5 c.637C>T VUS r.(?) p.(Arg213Trp)
+/. - c.650A>G pathogenic (recessive) r.(?) p.(Lys217Arg)
Legend