Transcript #00000467

Transcript name transcript variant 1
Gene name ATP1B4 (ATPase, Na+/K+ transporting, beta 4 polypeptide)
Chromosome X
Transcript - NCBI ID NM_001142447.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001135919.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.17G>A likely benign r.(?) p.(Arg6Gln)
?/. 1 c.23G>C - r.(?) p.(Arg8Thr)
?/. - c.133G>A VUS r.(?) p.(Val45Met)
-?/. - c.137C>T likely benign r.(?) p.(Thr46Met)
-?/. 2 c.261G>A - r.(?) p.(=)
-?/. - c.303T>G likely benign r.(?) p.(Phe101Leu)
?/. - c.328+312C>A - - p.(=)
?/. - c.328+312C>A - - p.(=)
?/. - c.563-143del - - p.(=)
?/. - c.563-143del - - p.(=)
?/. - c.563-141del - - p.(=)
?/. - c.563-141del - - p.(=)
-?/. - c.608C>T likely benign r.(?) p.(Pro203Leu)
?/. - c.759+209C>A - - p.(=)
?/. - c.759+209C>A - - p.(=)
?/. - c.759+274G>C - - p.(=)
?/. - c.759+274G>C - - p.(=)
?/. - c.759+292C>A - - p.(=)
?/. - c.760-91C>G - - p.(=)
?/. - c.760-91C>G - - p.(=)
-?/. - c.773G>A likely benign r.(?) p.(Arg258His)
-?/. - c.922A>T likely benign r.(?) p.(Thr308Ser)
?/. 8 c.922A>T - r.(?) p.(Thr308Ser)
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