Transcript #00000675

Transcript name transcript variant 1
Gene name ABCC4 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)
Chromosome 13
Transcript - NCBI ID NM_005845.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005836.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.317A>G VUS r.(?) p.(Lys106Arg)
?/. - c.532-1443C>T - - p.(=)
./. - c.1085G>A - r.(?) p.(Arg362Gln)
./. - c.1150C>T VUS r.(?) p.(Arg384*)
-?/. - c.1161+8T>A likely benign r.(=) p.(=)
?/. - c.1185A>G VUS r.(?) p.(Ile395Met)
-?/. - c.1825-7A>G likely benign r.(=) p.(=)
./. - c.2468dup VUS r.(?) p.(Asn823Lysfs*12)
?/. - c.2672G>T VUS r.(?) p.(Arg891Leu)
-?/. - c.3482A>G likely benign r.(?) p.(Asp1161Gly)
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