Transcript #00023864

Transcript name solute carrier family 9 (sodium/hydrogen exchanger), member 6, transcript variant 1
Gene name SLC9A6 (solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6)
Chromosome X
Transcript - NCBI ID NM_001042537.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001036002.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.25G>T likely benign - -
-?/. - c.25G>T likely benign - -
-/. - c.25G>T benign - -
-?/. - c.25G>T likely benign r.(?) p.(Ala9Ser)
-?/. - c.148G>T likely benign r.(?) p.(Ala50Ser)
+/. 1 c.190G>T pathogenic r.(?) p.(Glu64*)
-/. - c.326-166G>A benign r.(=) p.(=)
-/. - c.525+104G>A benign r.(=) p.(=)
+/. 2i c.526-1G>A pathogenic r.spl p.?
+/. 3 c.540_547dup pathogenic r.(?) p.(Phe183*)
+/. - c.603+3_603+6del - r.526_603del p.Val176_Arg201del
-/. - c.604-17del benign r.(=) p.(=)
?/. - c.604-7_604-6dup - r.(?) p.(=)
?/. - c.604-7_604-6dup - r.(?) p.(=)
?/. - c.604-7_604-6dup - r.(?) p.(=)
?/. - c.604-6dup - r.(?) p.(=)
-/. - c.604-6dup benign r.(=) p.(=)
?/. - c.604-6dup - r.(?) p.(=)
?/. - c.604-6dup - r.(?) p.(=)
?/. - c.604-6dup - r.(?) p.(=)
+?/. - c.652G>A likely pathogenic - -
?/. - c.737A>G VUS r.(?) p.(Asp246Gly)
?/. - c.794-5A>G VUS - -
+?/. - c.856_862del likely pathogenic - -
?/? - c.860_865del - r.(?) p.(Glu287_Ser288del)
-/. - c.900-6C>T benign r.(=) p.(=)
?/. - c.913T>C VUS r.(?) p.(Tyr305His)
./. - c.1148-2A>G - r.spl? p.?
+?/. 9 c.1148G>A likely pathogenic r.(?) p.(Gly383Asp)
-/. - c.1185A>C benign r.(=) p.(=)
?/? - c.1236+31C>A - r.(=) p.(=)
-/. - c.1236+31C>A benign r.(=) p.(=)
?/. - c.1236+68del - r.(?) p.(=)
+/. 9i_16_ c.(1236+1_1237-557)_(*92045_?)del pathogenic r.? p.?
-?/. - c.1313A>G likely benign - -
?/? - c.1351-63G>A - r.(=) p.(=)
-?/. - c.1383T>C likely benign r.(=) p.(=)
+/. 11 c.1415dup pathogenic r.(?) p.(Arg473Lysfs*3)
?/? - c.1462+8G>A - r.(=) p.(=)
-/. - c.1462+8G>A benign r.(=) p.(=)
+/. 12 c.1498C>T pathogenic r.(?) p.(Arg500*)
+/. 12 c.1498C>T pathogenic r.(?) p.(Arg500*)
+/. 12 c.1568G>A pathogenic r.(?) p.(Trp523*)
./. - c.1577del - r.(?) p.(Gly526Valfs*53)
-/. - c.1617-98T>G benign r.(=) p.(=)
?/? - c.1617-63T>C - r.(=) p.(=)
+/. 13 c.1639G>T pathogenic r.(?) p.(Glu547*)
+/. - c.1639G>T pathogenic r.(?) p.(Glu547*)
+/. - c.1639G>T pathogenic r.(?) p.(Glu547*)
-?/. - c.1648-3C>T likely benign r.spl? p.?
-?/. - c.1703G>A likely benign - -
-/. - c.1703G>A benign r.(?) p.(Arg568Gln)
-?/. - c.1703G>A likely benign r.(?) p.(Arg568Gln)
+/. 14 c.1710G>A pathogenic r.(?) p.(Trp570*)
+/. 14 c.1710G>A pathogenic r.(?) p.(Trp570*)
-/. - c.1727+18A>G benign r.(=) p.(=)
?/. - c.1727+113_1727+114insC - r.(?) p.(=)
-?/. - c.1728-4G>A likely benign - -
-/. - c.1728-4G>A - r.spl? p.?
-/. - c.1728-4G>A benign r.spl? p.?
?/? - c.1755C>T - r.(=) p.(=)
-/. - c.1755C>T benign r.(=) p.(=)
-/. - c.1755C>T benign r.(=) p.(=)
?/. - c.1912A>G VUS r.(?) p.(Thr638Ala)
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