Transcript #00000581

Transcript name carbonic anhydrase VB, mitochondrial
Gene name CA5B (carbonic anhydrase VB, mitochondrial)
Chromosome X
Transcript - NCBI ID NM_007220.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009151.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.131G>A VUS r.(?) p.(Arg44Gln)
-?/. - c.140C>T likely benign r.(?) p.(Ala47Val)
?/. - c.143-251C>T - - p.(=)
?/. - c.143-251C>T - - p.(=)
-?/. - c.189C>A - r.(=) p.(=)
?/. - c.341-286A>G - - p.(=)
-?/. - c.514C>G likely benign r.(?) p.(Leu172Val)
?/. - c.555+7T>A - - p.(=)
?/. - c.619-310G>A - - p.(=)
?/. - c.619-310G>A - - p.(=)
?/. - c.619-73G>A - - p.(=)
?/. - c.619-73G>A - - p.(=)
?/. - c.619-22G>A - - p.(=)
?/. - c.619-22G>A - - p.(=)
?/. - c.775-203A>G - - p.(=)
?/. - c.775-203A>G - - p.(=)
-?/. - c.918G>A - r.(=) p.(=)
?/. - c.*543A>C - - p.(=)
?/. - c.*543A>C - - p.(=)
?/. - c.*856A>G - - p.(=)
?/. - c.*856A>G - - p.(=)
?/. - c.*2013C>G - - p.(=)
?/. - c.*2013C>G - - p.(=)
?/. - c.*3200_*3201insT - - p.(=)
?/. - c.*3200_*3201insT - - p.(=)
?/. - c.*3209dup - - p.(=)
?/. - c.*3209dup - - p.(=)
?/. - c.*3599_*3600insA - - p.(=)
?/. - c.*3599_*3600insA - - p.(=)
?/. - c.*3600dup - - p.(=)
?/. - c.*3600dup - - p.(=)
?/. - c.*4197G>A - - p.(=)
?/. - c.*4197G>A - - p.(=)
?/. - c.*4784G>A - - p.(=)
?/. - c.*4784G>A - - p.(=)
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