LOVD - Variant listings for PINK1

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63 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
Ascending
1 c.70_101del - p.Lys24GlyfsX30 - PINK1_00001
1 c.203_204GC>CT - p.Arg68Pro - PINK1_00002
1 c.275G>T - p.Cys92Phe - PINK1_00003
1 c.292C>T - p.R98W - PINK1_00043
1 c.332T>G - p.I111S - PINK1_00044
1 c.373T>G - p.Cys125Gly - PINK1_00004
2 c.440G>A - p.Arg147His - PINK1_00005
2 c.502G>C
  (Reported 2 times)
- p.Ala168Pro - PINK1_00006
2 c.558G>C - p.K186N 2 PINK1_00047
2 c.577A>G - p.G193R - PINK1_00046
2 c.587C>T - p.Pro196Leu - PINK1_00007
2 c.626C>T - p.P209L 1 PINK1_00048
2 c.650C>A - p.A217D 8 PINK1_00045
3 c.692A>G - p.Glu231Gly - PINK1_00008
3 c.715C>T - p.Gln239X - PINK1_00009
3 c.718G>A
  (Reported 2 times)
- p.Glu240Lys - PINK1_00010
3 c.736C>T
  (Reported 2 times)
- p.Arg246X - PINK1_00011
3 c.774C>A - p.Tyr258X - PINK1_00012
4 c.802C>G - p.Leu268Val - PINK1_00013
4 c.813C>A - p.His271Gln - PINK1_00014
4 c.836G>A - p.Arg279His - PINK1_00015
4 c.838G>A - p.Ala280Thr - PINK1_00016
4 c.887C>T - p.Pro296Leu - PINK1_00017
4 c.889delG - p.D297fsX318 2 PINK1_00049
4 c.926G>A - p.Gly309Asp - PINK1_00018
4 c.938C>T - p.T313M 2 PINK1_00051
4 c.949G>A - p.V317I - PINK1_00050
4 c.952A>T - p.Met318Leu - PINK1_00019
5 c.965C>T - p.P322L - PINK1_00052
5 c.1015G>A - p.Ala339Thr - PINK1_00020
5 c.1018G>A - p.A340T 2 PINK1_00053
5 c.1040T>C
  (Reported 2 times)
- p.Leu347Pro - PINK1_00021
5 c.1106T>C - p.Leu369Pro - PINK1_00022
6-8 c.1124-1535_(*881)del - - - PINK1_00042
6 c.1147G>A - p.A383T - PINK1_00055
6 c.1157G>C - p.Gly386Ala - PINK1_00023
6 c.1163T>C - p.Cys388Arg - PINK1_00024
6 c.1184G>T - p.G395V - PINK1_00054
6 c.1196C>T
  (Reported 2 times)
- p.Pro399Leu - PINK1_00025
6 c.1220G>A - p.Arg407Gln - PINK1_00026
6 c.1226G>T - p.Gly409Val - PINK1_00027
6 c.1231G>A
  (Reported 4 times)
- p.G411S - PINK1_00056
6 c.1250G>A - p.Glu417Gly - PINK1_00028
6 c.1273C>T - p.Pro425Ser - PINK1_00029
7 c.1291T>C - p.Y431H - PINK1_00057
7 c.1311G>A
  (Reported 3 times)
- p.Trp437X - PINK1_00030
7 c.1325T>C - p.Ile442Thr - PINK1_00031
7 c.1352A>G - p.N451S - PINK1_00058
7 c.1366C>T
  (Reported 2 times)
- p.Gln456X - PINK1_00032
7 c.1391G>A - p.Arg464His - PINK1_00033
7 c.1426G>A
  (Reported 2 times)
- p.Glu476Lys - PINK1_00034
7 c.1466T>C - p.Leu489Pro - PINK1_00035
7 c.1474C>T
  (Reported 2 times)
- p.Arg492X - PINK1_00036
8 c.1493C>T - p.P498L 1 PINK1_00063
8 c.1502G>C - p.R501P - PINK1_00060
8 c.1557delG - p.Leu519LeufsX4 - PINK1_00037
8 c.1562A>C - p.N521T 3 PINK1_00062
8 c.1573G>A - p.Asp525Asn - PINK1_00039
8 c.1573_1574insTTAG
  (Reported 2 times)
- p.Asp525ValfsX38 - PINK1_00038
8 c.1602_1603insCAA - p.534_535insGln - PINK1_00040
8 c.1647_1650del - p.Cys549TrpfsX5 - PINK1_00041
8 c.1723T>C - p.C575R - PINK1_00061
N/A g.15445_15467del23 - - - PINK1_00064
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Legend: [ PINK1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency if variant is non pathogenic. PINK1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.