Transcript #00023995

Transcript name kelch-like family member 40
Gene name KLHL40 (kelch-like family member 40)
Chromosome 3
Transcript - NCBI ID NM_152393.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689606.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

48 entries on 1 page. Showing entries 1 - 48.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/+? 1 c.46C>T pathogenic r.(?) p.(Gln16*)
+/+ 1 c.100G>C - r.(?) p.(Asp34His)
+/+ 1 c.134delC - r.(?) p.(Pro45Argfs*19)
?/. - c.238G>C VUS r.(?) p.(Asp80His)
+/+ 1 c.257T>C - r.(?) p.(Leu86Pro)
+/+ 1 c.270C>G - r.(?) p.(Tyr90*)
?/. - c.313T>C VUS r.(?) p.(Phe105Leu)
+/. - c.360C>A pathogenic r.(?) p.(Cys120*)
+/+ 1 c.581T>A - r.(?) p.(Val194Glu)
-?/. - c.600G>A likely benign r.(?) p.(=)
+?/+? 1 c.601T>C - r.(?) p.(Trp201Arg)
+/+ 1 c.602G>A - r.(?) p.(Trp201*)
+/+ 1 c.602G>T - r.(?) p.(Trp201Leu)
+/+ 1 c.790delC - r.(?) p.(Arg264Alafs*59)
?/? 1 c.931C>A - r.(?) p.(Arg311Ser)
+/+ 1 c.932G>T - r.(?) p.(Arg311Leu)
-/. 1 c.1034A>G - r.(?) p.(Asn345Ser)
+/? 2 c.1190C>T - r.(?) p.(Pro397Leu)
+/+ 2 c.1270_1272delinsAGATCAAGGT - r.(?) p.(Asp424Argfs*23)
+/+ 2 c.1281_1294del - r.(?) p.(Cys428Hisfs*12)
+/+ 3 c.1364A>G - r.(?) p.(His455Arg)
+/+ 3 c.1405G>T - r.(?) p.(Gly469Cys)
+/+ 3 c.1405G>T - r.(?) p.(Gly469Cys)
+?/+? 3i c.1421+1G>T - r.spl p.?
+/+ 4 c.1516A>C - r.(?) p.(Thr506Pro)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4 c.1582G>A - r.(?) p.(Glu528Lys)
+/+ 4i c.1608-1G>A - r.spl p.?
+/+ 5 c.1612G>C - r.(?) p.(Ala538Pro)
-?/. - c.1650C>T likely benign r.(?) p.(=)
-?/. - c.1738C>A likely benign r.(?) p.(Leu580Ile)
+/-? 6 c.1762G>A - r.(?) p.(Glu588Lys)
?/. - c.1792C>G VUS r.(?) p.(Arg598Gly)
-/. 6 c.1849T>C - r.(?) p.(Cys617Arg)
?/. - c.*1131T>C VUS r.(=) p.(=)
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