LOVD - Variant listings for CYP27A1

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69 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

DNA published Hide DNA published column Descending
Ascending

Protein Hide Protein column Descending
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DB-ID Hide DB-ID column Descending
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Reference Hide Reference column Descending
Ascending
1 c.5_6insC
  (Reported 7 times)
- p.A2AfsX179 CYP27A1_00001 -
1 c.11_21del - p.L4RfsX3 CYP27A1_00005 -
1 c.73delG - p.A25PfsX32 CYP27A1_00060 -
1i c.256-1G>T - - CYP27A1_00069 -
2 c.305delC
  (Reported 3 times)
- p.P102LfsX5 CYP27A1_00007 -
2 c.355delC
  (Reported 8 times)
Deletion of Cytosine 376 p.R119LfsX24 CYP27A1_00008 -
2 c.366C>A
  (Reported 2 times)
- p.G112G CYP27A1_00009 -
2 c.369_375delGTACCCA - p.K123KfsX19 CYP27A1_00061 -
2 c.379C>T
  (Reported 3 times)
- p.R127W CYP27A1_00010 dbSNP
2 c.380G>A
  (Reported 3 times)
- p.R127Q CYP27A1_00013 -
2 c.399G>A - p.W133X CYP27A1_00016 -
2 c.409C>T
  (Reported 5 times)
- p.R137W CYP27A1_00018 dbSNP
2 c.410G>A G-to-A mutation in exon 2 (R104Q) p.R137Q CYP27A1_00058 -
2 c.433G>A
  (Reported 2 times)
- p.G145R CYP27A1_00054 -
2 c.434G>A - p.G145E CYP27A1_00020 dbSNP
2 c.438G>A - p.P146P CYP27A1_00022 -
2i c.446+1G>A - - CYP27A1_00015 -
3 c.475C>T - p.Q159X CYP27A1_00023 dbSNP
3 c.525-526delG
  (Reported 2 times)
(cDNA) 546/547 G deletion leading to a frameshift p.T175TfsX7 CYP27A1_00024 -
3 c.583G>T
  (Reported 2 times)
- p.E195X CYP27A1_00025 -
3 c.646G>C
  (Reported 7 times)
- p.A216P CYP27A1_00019 dbSNP
3i c.647-1G>T - - CYP27A1_00057 -
4 c.691C>T - p.R231X CYP27A1_00027 dbSNP
4 c.745C>T - p.R249X CYP27A1_00029 dbSNP
4 c.752C>A
  (Reported 3 times)
- p.S251X CYP27A1_00055 -
4 c.776A>G
  (Reported 2 times)
- p.K259R CYP27A1_00030 dbSNP
4 c.779G>A - p.W260X CYP27A1_00031 -
4 c.808C>T
  (Reported 3 times)
- p.R270X CYP27A1_00003 dbSNP
4 c.819delT
  (Reported 4 times)
Deletion of thymidine in exon 4 p.D273EfsX13 CYP27A1_00032 -
4i c.844+1G>A
  (Reported 4 times)
- - CYP27A1_00033 -
4i c.845-1G>A
  (Reported 2 times)
- - CYP27A1_00034 -
5 c.850A>T
  (Reported 4 times)
- p.K284X CYP27A1_00014 dbSNP
5 c.863delA - p.E288fs CYP27A1_00056 -
5 c.944_948del - p.L315QfsX15 CYP27A1_00021 -
5 c.1016C>T
  (Reported 19 times)
- p.T339M CYP27A1_00011 dbSNP
6 c.1028C>G - p.T343R CYP27A1_00065 -
6 c.1043_1054delTGTACCACCTCT
  (Reported 6 times)
- p.L348PfsX66 CYP27A1_00062 -
6 c.1061A>G - p.D354G CYP27A1_00037 dbSNP
6 c.1146_1151delins
  (Reported 2 times)
- p.H382QfsX26 CYP27A1_00066 -
6 c.1151C>T
  (Reported 5 times)
- p.P384L CYP27A1_00002 dbSNP
6 c.1180_1181del - - CYP27A1_00038 -
6 c.1183C>A
  (Reported 2 times)
- p.R395S CYP27A1_00041 dbSNP
6 c.1183C>T
  (Reported 25 times)
- p.R395C CYP27A1_00004 dbSNP
6 c.1184G>A
  (Reported 3 times)
- p.R395H CYP27A1_00017 -
6i c.1184+1G>A
  (Reported 6 times)
- - CYP27A1_00012 -
6i c.1184+75_1596+1142del
  (Reported 2 times)
- - CYP27A1_00044 -
6i c.1185-1G>A
  (Reported 2 times)
- p.L396PfsX28 CYP27A1_00068 -
6i c.1185-1G>T - - CYP27A1_00042 -
7 c.1202C>G - p.P401R CYP27A1_00045 -
7 c.1209C>G - p.N403K CYP27A1_00040 -
7 c.1213C>T
  (Reported 2 times)
- p.R405W CYP27A1_00047 -
7 c.1214G>A
  (Reported 5 times)
- p.R405Q CYP27A1_00043 dbSNP
7 c.1222G>T
  (Reported 2 times)
- p.E408X CYP27A1_00048 -
7 c.1238T>A - p.V413D CYP27A1_00067 -
7i c.1263+1G>A
  (Reported 11 times)
- - CYP27A1_00028 -
7i c.1263+5G>T
  (Reported 2 times)
- - CYP27A1_00026 -
7i c.1264-1G>A - - CYP27A1_00049 -
8 c.1321C>T - p.P441S CYP27A1_00039 -
8 c.1330_1333delTTCC - p.F444SfsX6 CYP27A1_00059 -
8 c.1381C>T
  (Reported 2 times)
- p.Q461X CYP27A1_00050 -
8 c.1414_1421delGGGGTCCG
  (Reported 2 times)
- p.G472GfsX50 CYP27A1_00063 -
8 c.1415G>C
  (Reported 2 times)
- p.G472A CYP27A1_00035 dbSNP
8 c.1420C>T
  (Reported 5 times)
- p.R474W CYP27A1_00051 dbSNP
8 c.1421G>A
  (Reported 5 times)
- p.R474Q CYP27A1_00046 dbSNP
8 c.1434C>A - p.G478G CYP27A1_00052 -
8 c.1435C>A - p.R479S CYP27A1_00053 -
8 c.1435C>G - p.R479G CYP27A1_00036 dbSNP
8 c.1435C>T
  (Reported 2 times)
- p.R479C CYP27A1_00006 dbSNP
9 c.1537C>T
  (Reported 4 times)
- p.Q525X CYP27A1_00064 -
1 - 69

Legend: [ CYP27A1 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. Protein: Variation at protein level. CYP27A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database.