Transcript #00000864 (NM_001171.5, ABCC6 gene)

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 -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1571 entries on 16 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

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 - -
-?/. _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 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 r.(?) p.(Val13=)
-?/. - c.67G>T r.(?) p.(Ala23Ser)
-?/. - c.96G>A r.(?) p.(Leu32=)
?/? 2 c.105del r.(?) p.(Val37Serfs*44)
+/+ 2 c.105del r.(?) p.(Val37Serfs*44)
?/. 2 c.105del 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 r.(?) p.(Val39=)
+/. - c.123dup r.(?) p.(Met42HisfsTer59)
+/+ 2 c.177_181del r.(?) p.(Arg60Leufs*39)
?/. 1i c.179-195del r.(=) p.(=)
-/. - c.179G>A r.(?) p.(Arg60Gln)
?/? 2 c.179_187del r.(?) p.(Arg60_Tyr62del)
?/? 2 c.179_187del r.(?) p.(Arg60_Tyr62del)
+/+ 2 c.179_187del r.(?) p.(Arg60_Tyr62del)
?/? 20i c.179_187del r.(?) p.(Arg60_Tyr62del)
+/+ 2 c.179_187del 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)
?/. - c.194T>A r.(?) p.(Met65Lys)
?/. 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)
-?/. - c.302C>G r.(?) p.(Ala101Gly)
-/- 3i c.345+26C>T r.(=) p.(=)
-/. - c.345+26C>T r.(=) p.(=)
?/. 3i c.345+26C>T r.(=) p.(=)
-?/. - c.346-6G>A 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 r.(=) p.(=)
-?/. - c.346-6G>A 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.486C>T r.(?) p.(Ser162=)
-/. - c.487G>A r.(?) p.(Asp163Asn)
-/. - c.487G>A r.(?) p.(Asp163Asn)
-?/. - c.507C>T r.(?) p.(Ser169=)
-?/. - c.518G>A 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.(=)
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