Transcript #00000864

Transcript name transcript variant 1
Gene name ABCC6 (ATP-binding cassette, sub-family C (CFTR/MRP), member 6)
Chromosome 16
Transcript - NCBI ID NM_001171.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_001162.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

1494 entries on 15 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-243860_*1438609dup - r.? p.?
./. - c.-71169_*749286del - r.? p.?
+/+ _1_1i c.-3189_36+1181del - r.(=) p.0
-?/. _1 c.-219A>C - - -
-?/. - c.-219A>C likely benign r.(?) p.(=)
-?/. _1 c.-132C>T - - -
-?/. _1 c.-127C>T - - -
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
+/. _1_4i c.(?_-37)_(474+1_475-1)del - r.0? p.0?
-?/. - c.-2_-1insTGCC likely benign r.(?) p.(=)
+/+ _1_21i c.(?_-1)_(2787+1_2788-1)del - r.0 p.0
+/+ _1_31_ c.(?_-1)_(*1_?)del - r.0 p.0
+/+ 22i_29i c.(2995+1_2996-1)_(4208+1_42091-)del - r.? p.?
+/+ _1_31_ c.0 - r.0 p.0
+/+ _1_31_ c.0 - r.0 p.0
+/+ _1_31_ c.0 - r.0 p.0
+/+ _1_31_ c.0 - r.0 p.0
+/+ 17i c.2248-2_1delAG - r.spl p.?
+/+ 17i c.2416-2_1delAG - r.spl p.?
+/+ 17i c.2248-12_11delTT - r.spl p.?
+/. 1i c.36+1G>T - r.spl p.?
+/+ 1i c.37-1G>A - r.spl p.?
?/. 1i c.37-1G>A - r.(=) p.?
-/. - c.39C>T benign r.(?) p.(=)
-?/. - c.67G>T likely benign r.(?) p.(Ala23Ser)
?/? 2 c.105delA - r.(?) p.(Val37Serfs*44)
+/+ 2 c.105delA - r.(?) p.(Val37Serfs*44)
?/. 2 c.105delA - r.(?) p.(Val37Serfs*44)
+/? 2 c.113G>C - r.(?) p.(Trp38Ser)
+/. 2 c.113G>C - r.(?) p.(Trp38Ser)
?/. 2 c.113G>C - r.(?) p.(Trp38Ser)
-?/. - c.117A>G likely benign r.(?) p.(=)
+/. - c.123dup pathogenic r.(?) p.(Met42Hisfs*59)
+/+ 2 c.175_179del - r.(?) p.(Arg60Leufs*39)
?/? 20i c.177_185del - r.(?) p.(Arg60_Tyr62del)
?/. 1i c.179-195del - r.(=) p.(=)
-/. - c.179G>A benign r.(?) p.(Arg60Gln)
+/+ 2 c.179_187del - r.(?) p.(Arg60_Tyr62del)
?/? 2 c.179_190delinsTCC - r.(?) p.(Arg60_Tyr62del)
?/? 2 c.179_190delinsTCC - r.(?) p.(Arg60_Tyr62del)
+/+ 2 c.179_190delinsTCC - r.(?) p.(Arg60_Tyr62del)
+/+ 2 c.179_195del - r.(?) p.(Arg60Leufs*35)
-/- 2 c.182G>A - r.(?) p.(Gly61Asp)
?/. 2 c.(191G>A) - r.(?) p.(Arg64Gln)
?/. 2 c.(196dupT) - r.(?) p.(Ser66Phefs*35)
+/+? 2i c.220-1G>C - r.spl p.?
?/. 2i c.220-1G>C - r.spl p.?
+/+ 3 c.220_222del - r.(?) p.(Val74del)
?/. 3 c.220_222del - r.(?) p.(Val74del)
?/? 30i c.232G>A - r.(?) p.(Ala78Thr)
-?/. 3 c.232G>A - r.(?) p.(Ala78Thr)
+/. 3 c.280_281insG - r.(?) p.(Ile94Serfs*7)
-/- 3i c.345+26C>T - r.(=) p.(=)
-/. - c.345+26C>T benign r.(=) p.(=)
?/. 3i c.345+26C>T - r.(=) p.(=)
-/- 3i c.346-6G>A - r.(=) p.(=)
-?/. 3i c.346-6G>A - r.(?) p.(=)
?/? 3i c.346-6G>A - r.(=) p.(=)
-/. - c.346-6G>A benign r.(=) p.(=)
-?/. - c.346-6G>A likely benign r.(=) p.(=)
?/. 3i c.346-6G>A - r.(=) p.(=)
+/+ 4 c.373G>T - r.(?) p.(Glu125*)
+/+ 4 c.386G>A - r.(?) p.(Gly129Glu)
?/. 4 c.386G>A - r.(?) p.(Gly129Glu)
-/- 4 c.473C>T - r.(?) p.(Ala158Val)
?/. 4 c.473C>T - r.(?) p.(Ala158Val)
-/- 4i c.475-45C>T - r.(=) p.(=)
?/. 4i c.475-45C>T - r.(=) p.(=)
-/. - c.487G>A benign r.(?) p.(Asp163Asn)
-/. - c.487G>A benign r.(?) p.(Asp163Asn)
-?/. - c.487G>A likely benign r.(?) p.(Asp163Asn)
-?/. - c.507C>T likely benign r.(?) p.(=)
-?/. - c.518G>A likely benign r.(?) p.(Cys173Tyr)
-/- 2 c.549G>A - r.(?) p.(Leu183=)
-/- 2 c.549G>A - r.(?) p.(Leu183=)
?/. 5 c.549G>A - r.(?) p.(=)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/. 5 c.595C>T - r.(?) p.(Gln199*)
+/+ 5 c.595C>T - r.(?) p.(Gln199*)
-/- 5i c.600+23C>T - r.(=) p.(=)
?/. 5i c.600+23C>T - r.(=) p.(=)
-/-? 6 c.619G>A - r.(?) p.(Gly207Arg)
?/. 6 c.619G>A - r.(?) p.(Gly207Arg)
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