Transcript #00000540

Transcript name arylsulfatase E (chondrodysplasia punctata 1)
Gene name ARSE (arylsulfatase E (chondrodysplasia punctata 1))
Chromosome X
Transcript - NCBI ID NM_000047.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000038.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

163 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_2i c.(?_-21)_23+?del - r.(?) p.0?
+/. _1_2i c.(?_-21)_23+?del - r.(?) p.0?
-?/. - c.-20-5T>C likely benign r.spl? p.?
-/. - c.-10G>C benign r.(?) p.(=)
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
+/. _1_11_ c.(?_-1)_(*1_?)del - r.(?) p.0
-?/. - c.23+5G>C likely benign r.spl? p.?
?/. - c.23+115G>A - - p.(=)
?/. - c.23+115G>A - - p.(=)
?/. - c.23+123A>G - - p.(=)
?/. - c.23+123A>G - - p.(=)
?/. - c.23+163C>T - - p.(=)
?/. - c.23+163C>T - - p.(=)
?/. - c.23+185G>A - - p.(=)
+/. 3 c.36G>C - r.(?) p.(R12S)
+/. 3 c.36G>C - r.(?) p.(R12S)
+/. 3 c.36G>C - r.(?) p.(R12S)
+/. 3 c.36G>C - r.(?) p.(R12S)
+/. 3 c.36G>C - r.(?) p.(R12S)
+?/. 3 c.36G>C - r.(?) p.R12S
-?/. - c.70A>C likely benign r.(?) p.(Ser24Arg)
+/. - c.74T>A pathogenic r.(?) p.(Leu25*)
?/. 3 c.78A>G - r.(?) p.(=)
+/. 3 c.119T>G - r.(?) p.(I40S)
+/. 3 c.119T>G - r.(?) p.(I40S)
+/. 3 c.119T>G - r.(?) p.(I40S)
+/. 3 c.126_128delTCT - r.(?) p.(Leu43del)
+/. 3 c.139G>A - r.(?) p.(D47N)
+/. 3 c.169G>A - r.(?) p.(G57S)
?/. - c.186-267G>T - - p.(=)
?/. - c.186-267G>T - - p.(=)
+/. 4 c.217G>A - r.(?) p.(G73S)
+/. 4 c.217G>A - r.(?) p.(G73S)
-?/. - c.220G>A likely benign r.(?) p.(Val74Met)
+/. 4 c.239T>A - r.(?) p.(I80N)
+?/. 4 c.239T>A - r.(?) p.I80N
+/. 4 c.268A>G - r.(?) p.(R90G)
?/. - c.308-168C>T - - p.(=)
?/. - c.308-168C>T - - p.(=)
+/. 5 c.314dupT - r.(?) p.(104fs22*)
+/. 5 c.332G>C - r.(?) p.(R111P)
+?/. 5 c.332G>C - r.(?) p.R111P
+/. 5 c.349G>A - r.(?) p.(G117R)
+/. 5 c.359G>A - r.(?) p.(G120E)
+/. 5 c.410G>C - r.(?) p.(G137A)
+/. 5 c.410G>C - r.(?) p.(G137A)
+/. 5 c.410G>C - r.(?) p.(G137A)
+/. 5 c.410G>C - r.(?) p.(G137A)
+/. 5 c.410G>C - r.(?) p.(G137A)
+/. 5 c.410G>T - r.(?) p.(G137V)
+?/. 5 c.410G>T - r.(?) p.G137V
+/. - c.410G>T pathogenic r.(?) p.(Gly137Val)
-?/. - c.430+8C>T likely benign r.(=) p.(=)
?/. - c.430+173C>G - - p.(=)
?/. - c.430+173C>G - - p.(=)
+/. 6 c.445G>T - r.(?) p.(G149C)
-?/. - c.467G>A likely benign r.(?) p.(Ser156Asn)
-?/. - c.467G>A likely benign r.(?) p.(Ser156Asn)
-?/. 6 c.495T>C - r.(?) p.(=)
?/. 6 c.495T>C - r.(?) p.(=)
?/. 6 c.548G>A - r.(?) p.(R183H)
?/. 6 c.548G>A - r.(?) p.(R183H)
-?/. - c.548G>A likely benign r.(?) p.(Arg183His)
?/. 6 c.549C>T - r.(?) p.(=)
?/. - c.632_652dup VUS r.(?) p.(Leu211_Thr217dup)
-?/. - c.650C>T likely benign r.(?) p.(Thr217Ile)
-?/. - c.715G>A likely benign r.(?) p.(Ala239Thr)
-?/. - c.728T>C likely benign r.(?) p.(Phe243Ser)
+/. 6 c.733G>C - r.(?) p.(G245R)
+?/. 6 c.733G>C - r.(?) p.G245R
+/. 6 c.767dupT - r.(?) p.(255fs32*)
+/. 6 c.767dupT - r.(?) p.(255fs32*)
-?/. - c.775C>G likely benign r.(?) p.(His259Asp)
-?/. 6 c.786G>A - r.(?) p.(=)
?/. 6 c.786G>A - r.(?) p.(=)
?/. - c.827T>A VUS r.(?) p.(Leu276Gln)
-?/. - c.840G>A likely benign r.(?) p.(=)
?/. - c.855-212_855-204del - - p.(=)
?/. - c.855-212_855-204del - - p.(=)
?/. - c.855-212_855-203del - - p.(=)
?/. - c.855-212_855-203del - - p.(=)
?/. - c.855-196_855-188del - - p.(=)
+/. 6i_10i c.855-?_1411+?del - r.(?) p.(del)
+/. 6i_10i c.855-?_1411+?del - r.(?) p.(del)
+/. 6i_10i c.855-?_1411+?del - r.(?) p.(del)
-?/. - c.898G>A likely benign r.(?) p.(Val300Ile)
+/. 7 c.916A>G - r.(?) p.(T306A)
+?/. - c.949G>A likely pathogenic r.(?) p.(Gly317Arg)
+/. 07 c.949G>A - r.(?) p.(G317R)
+/. 07 c.949G>A - r.(?) p.(G317R)
+/. 07 c.949G>A - r.(?) p.(G317R)
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