Transcript #00001390

Transcript name ATP-binding cassette, sub-family B (MDR/TAP), member 7
Gene name ABCB7 (ATP-binding cassette, sub-family B (MDR/TAP), member 7)
Chromosome X
Transcript - NCBI ID NM_004299.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004290.2
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.73G>C likely benign r.(?) p.(Ala25Pro)
-?/. - c.121T>C likely benign r.(?) p.(Trp41Arg)
-?/. - c.151A>G likely benign r.(?) p.(Thr51Ala)
-?/. 1i c.168+69C>G - r.(?) p.(=)
-?/. 1i c.168+69C>G - r.(?) p.(=)
-?/. - c.204G>C likely benign r.(?) p.(Gln68His)
-?/. - c.204G>C likely benign r.(?) p.(Gln68His)
-?/. - c.214A>G likely benign r.(?) p.(Lys72Glu)
-?/. 3i c.336+125_336+126insAA - r.(?) p.(=)
-?/. 3i c.336+126dup - r.(?) p.(=)
-?/. 3i c.336+126dup - r.(?) p.(=)
-?/. 3i c.336+135_336+136insA - r.(?) p.(=)
-?/. 3i c.336+135_336+136insA - r.(?) p.(=)
-/. - c.356G>A benign r.(?) p.(Arg119Gln)
?/. 7 c.941G>A - r.(?) p.(Arg314Gln)
-?/. - c.941G>A likely benign r.(?) p.(Arg314Gln)
-?/. - c.941G>A likely benign r.(?) p.(Arg314Gln)
-?/. - c.948-7C>T likely benign r.(=) p.(=)
-?/. - c.1177A>G likely benign r.(?) p.(Ile393Val)
?/. - c.1177A>G VUS r.(?) p.(Ile393Val)
+/. 9 c.1203T>G - r.(?) p.(Ile401Met)
+/. 9 c.1203T>G - r.(?) p.(Ile401Met)
+/. 9 c.1203T>G - - p.Ile401Met
+/. 10 c.1234G>C - r.1234g>c p.Val412Leu
+/. 10 c.1234G>C - r.(?) p.(Val412Leu)
+/. 10 c.1300G>A - r.(?) p.(Glu434Lys)
+/. 10 c.1300G>A - r.(?) p.(Glu434Lys)
+?/. 10 c.1300G>A - - p.Glu434Lys
?/. 10 c.1323T>C - r.(?) p.(Asp441=)
-?/. - c.1386T>C likely benign r.(?) p.(=)
?/. - c.1495G>A VUS r.(?) p.(Gly499Arg)
?/. - c.1592A>G VUS r.(?) p.(Tyr531Cys)
-?/. - c.1742C>T likely benign r.(?) p.(Ala581Val)
-?/. - c.1938+9T>C likely benign r.(=) p.(=)
?/. - c.2228A>G VUS r.(?) p.(Asn743Ser)
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