Transcript #00000342

Transcript name solute carrier family 9 (sodium/hydrogen exchanger), member 6, transcript variant 2
Gene name SLC9A6 (solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6)
Chromosome X
Transcript - NCBI ID NM_006359.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006350.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

85 entries on 1 page. Showing entries 1 - 85.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/? 1_1i c.-6_325+5del - r.0? p.0?
?/. - c.25G>T VUS r.(?) p.(Ala9Ser)
-/. - c.25G>T benign r.(?) p.(Ala9Ser)
-?/. - c.25G>T likely benign r.(?) p.(Ala9Ser)
-?/. - c.148G>T likely benign r.(?) p.(Ala50Ser)
./. - c.190G>T - r.(?) p.(Glu64*)
+?/. - c.213C>A likely pathogenic r.(?) p.(Ser71Arg)
?/. - c.223C>G VUS r.(?) p.(Leu75Val)
-/. - c.326-166G>A benign r.(=) p.(=)
-/. - c.429+200G>A benign r.(=) p.(=)
./. - c.430-1G>A - r.spl? p.?
./. - c.444_451dup - r.(?) p.(Phe151*)
?/. 3i c.508-7_508-6dup - r.(?) p.(=)
?/. 3i c.508-7_508-6dup - r.(?) p.(=)
?/. 3i c.508-7_508-6dup - r.(?) p.(=)
-/. - c.508-6del benign r.(=) p.(=)
?/. 3i c.508-6dup - r.(?) p.(=)
-/. - c.508-6dup benign r.(=) p.(=)
?/. 3i c.508-6dup - r.(?) p.(=)
?/. 3i c.508-6dup - r.(?) p.(=)
?/. 3i c.508-6dup - r.(?) p.(=)
-?/. - c.508-3C>T likely benign r.spl? p.?
?/. - c.556G>A VUS r.(?) p.(Gly186Arg)
+/? 3i c.603+3_603+6del - r.(?) p.?
+/. 3i c.603+3_603+6del - r.526_603del p.Val176_Arg201del
+/? 4 c.608_609del - r.(?) p.(His203Leufs*59)
?/. - c.641A>G VUS r.(?) p.(Asp214Gly)
-?/. - c.698-5A>G likely benign r.spl? p.?
?/. - c.761_767del VUS r.(?) p.(Gly254Valfs*9)
-/. - c.804-6C>T benign r.(=) p.(=)
?/. - c.817T>C VUS r.(?) p.(Tyr273His)
+/? 6 c.860_865del - r.(?) p.(Glu287_Ser288del)
./. - c.1052-2A>G - r.spl? p.?
./. - c.1052G>A - r.(?) p.(Gly351Asp)
-/. - c.1089A>C benign r.(?) p.(=)
-/. - c.1140+31C>A benign r.(=) p.(=)
?/. 9i c.1140+68del - r.(?) p.(=)
?/? 9 c.1185A>C - r.(?) p.(=)
-?/. - c.1217A>G likely benign r.(?) p.(Asn406Ser)
-/? 9i c.1236+31C>A - r.(=) p.(=)
-/? 9i c.1236+31C>A - r.(=) p.(=)
-?/. - c.1287T>C likely benign r.(?) p.(=)
-?/. - c.1314G>T likely benign r.(?) p.(Leu438Phe)
./. - c.1319dup - r.(?) p.(Arg441Lysfs*3)
-/? 10i c.1351-63G>A - r.(=) p.(=)
-/? 10i c.1351-63G>A - r.(=) p.(=)
-/. - c.1366+8G>A benign r.(=) p.(=)
./. - c.1402C>T - r.(?) p.(Arg468*)
./. - c.1402C>T - r.(?) p.(Arg468*)
-/? 11i c.1462+8G>A - r.(=) p.(=)
-/? 11i c.1462+8G>A - r.(=) p.(=)
./. - c.1472G>A - r.(?) p.(Trp491*)
./. - c.1481del - r.(?) p.(Gly494Valfs*53)
+/? 12 c.1498C>T - r.(?) p.(Arg500*)
-?/. - c.1520+4A>G likely benign r.spl? p.?
-?/. - c.1520+4A>G likely benign r.spl? p.?
-?/. - c.1520+4A>G likely benign r.spl? p.?
-/. - c.1521-98T>G benign r.(=) p.(=)
./. - c.1543G>T - r.(?) p.(Glu515*)
+/. - c.1543G>T - r.(?) p.(Glu515*)
+/. - c.1543G>T pathogenic r.(?) p.(Glu515*)
-?/. - c.1551+8T>A likely benign r.(=) p.(=)
-?/. - c.1552-3C>T likely benign r.spl? p.?
-?/. - c.1552-3C>T likely benign r.spl? p.?
-?/. - c.1607G>A likely benign r.(?) p.(Arg536Gln)
-/. - c.1607G>A benign r.(?) p.(Arg536Gln)
-?/. - c.1607G>A likely benign r.(?) p.(Arg536Gln)
./. - c.1614G>A - r.(?) p.(Trp538*)
./. - c.1614G>A - r.(?) p.(Trp538*)
-/? 12i c.1617-63T>C - r.(=) p.(=)
-/? 12i c.1617-63T>C - r.(=) p.(=)
-/. - c.1631+18A>G benign r.(=) p.(=)
-/. - c.1631+28del benign r.(=) p.(=)
?/. 14i c.1631+113_1631+114insC - r.(?) p.(=)
-?/. - c.1632-4G>A likely benign r.spl? p.?
-/. - c.1632-4G>A benign r.spl? p.?
-/. - c.1632-4G>A benign r.spl? p.?
-/. - c.1659C>T benign r.(?) p.(=)
-/. - c.1659C>T benign r.(?) p.(=)
+?/? 14 c.1703G>A - r.(?) p.(Arg568Gln)
?/? 15 c.1755C>T - r.(?) p.(=)
-/? 15 c.1755C>T - r.(?) p.(=)
-/? 15 c.1755C>T - r.(?) p.(=)
?/. - c.1816A>G VUS r.(?) p.(Thr606Ala)
-?/. - c.*8A>T likely benign r.(=) p.(=)
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