Transcript #00004205

Transcript name carbonic anhydrase IV
Gene name CA4 (carbonic anhydrase IV)
Chromosome 17
Transcript - NCBI ID NM_000717.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000708.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-6C>G benign r.(?) p.(=)
?/. - c.40C>T VUS r.(?) p.(Arg14Trp)
-?/. - c.58+18G>C likely benign r.(=) p.(=)
-/. - c.168C>T benign r.(?) p.(=)
-/. - c.204A>G benign r.(?) p.(=)
?/. - c.206G>A VUS r.(?) p.(Arg69His)
?/. - c.209T>G VUS r.(?) p.(Phe70Cys)
?/. - c.254A>C VUS r.(?) p.(Asn85Thr)
-/. - c.258C>T benign r.(?) p.(=)
-?/. - c.259G>A likely benign r.(?) p.(Gly87Arg)
-?/. - c.375C>T likely benign r.(?) p.(=)
?/. - c.415A>T VUS r.(?) p.(Met139Leu)
-/. - c.492G>A benign r.(?) p.(=)
-/. - c.531C>A benign r.(?) p.(Asn177Lys)
?/. - c.532G>A VUS r.(?) p.(Glu178Lys)
-/. - c.580+19G>A benign r.(=) p.(=)
-/. - c.661C>T benign r.(?) p.(=)
-/. 7 c.700G>A - r.(?) p.(Val234Ile)
-/. 7 c.700G>A - r.(?) p.(Val234Ile)
-/. 7 c.700G>A - r.(?) p.(Val234Ile)
-/. 7 c.700G>A - r.(?) p.(Val234Ile)
-/. - c.744+3G>A benign r.spl? p.?
?/. - c.745-5C>T VUS r.spl? p.?
?/. - c.787A>G VUS r.(?) p.(Thr263Ala)
?/. - c.788C>G VUS r.(?) p.(Thr263Arg)
?/. - c.800A>G VUS r.(?) p.(Lys267Arg)
?/. - c.802G>A VUS r.(?) p.(Asp268Asn)
?/. - c.806A>T VUS r.(?) p.(Asn269Ile)
-/. - c.807T>C benign r.(?) p.(=)
-/. 8 c.869C>T - r.(?) p.(Pro290Leu)
+/. - c.937T>C pathogenic r.(?) p.(*313Argext*?)
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