Transcript #00001871

Transcript name transcript variant 1
Gene name ABCC5 (ATP-binding cassette, sub-family C (CFTR/MRP), member 5)
Chromosome 3
Transcript - NCBI ID NM_005688.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005679.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

4 entries on 1 page. Showing entries 1 - 4.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.1328T>C VUS r.(?) p.(Met443Thr)
?/. - c.2051A>G VUS r.(?) p.(Asn684Ser)
?/. - c.2740T>C VUS r.(?) p.(Tyr914His)
?/. - c.2742T>A VUS r.(?) p.(Tyr914*)
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