LOVD - Variant listings for CYP27A1

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?/? 1 c.5_6insC
    + c.5_6insC
- p.A2AfsX179 CYP27A1_00001 - Cerebrotendinous Xanthomatosis Segev et al., 1995 - -
?/? 1 c.5_6insC
    + c.5_6insC, c.1151C>T, c.1151C>T
- p.A2AfsX179 CYP27A1_00001 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 1 c.5_6insC
    + c.808C>T, c.1151C>T
- p.A2AfsX179 CYP27A1_00001 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 1 c.5_6insC
    + c.1151C>T, c.1183C>T
- p.A2AfsX179 CYP27A1_00001 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 1 c.5_6insC
    + c.1151C>T
- p.A2AfsX179 CYP27A1_00001 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 1 c.11_21del
    + c.1435C>T
- p.L4RfsX3 CYP27A1_00005 - Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 1 c.73delG
    + c.369_375delGTACCCA
- p.A25PfsX32 CYP27A1_00060 - Cerebrotendinous Xanthomatosis Tian et al., 2011 - -
+?/? 1i c.256-1G>T
    + c.1185-1G>A, c.1185-1G>A
- - CYP27A1_00069 - Cerebrotendinous Xanthomatosis Chile:Santiago RNA RT-PCR
?/? 2 c.305delC
    + c.305delC
- p.P102LfsX5 CYP27A1_00007 - Cerebrotendinous Xanthomatosis Wang et al., 2006 - -
?/? 2 c.305delC
    + c.409C>T
- p.P102LfsX5 CYP27A1_00007 - Cerebrotendinous Xanthomatosis Chen et al., 2011 - -
?/? 2 c.355delC
    + c.355delC
Deletion of Cytosine 376 p.R119LfsX24 CYP27A1_00008 - Cerebrotendinous Xanthomatosis Leitersdorf et al., 1994 - -
?/? 2 c.355delC
    + c.355delC
Deletion of Cytosine 376 p.R119LfsX24 CYP27A1_00008 - Cerebrotendinous Xanthomatosis Leitersdorf et al., 1994 - -
?/? 2 c.355delC
    + c.355delC
Deletion of Cytosine 376 p.R119LfsX24 CYP27A1_00008 - Cerebrotendinous Xanthomatosis Leitersdorf et al., 1994 - -
?/? 2 c.355delC
    + c.355delC
Deletion of Cytosine 376 p.R119LfsX24 CYP27A1_00008 - Cerebrotendinous Xanthomatosis Leitersdorf et al., 1994 - -
?/? 2 c.366C>A
    + c.366C>A
- p.G112G CYP27A1_00009 - Cerebrotendinous Xanthomatosis Kato et al., 2003 - -
?/? 2 c.369_375delGTACCCA
    + c.73delG
- p.K123KfsX19 CYP27A1_00061 - Cerebrotendinous Xanthomatosis Tian et al., 2011 - -
?/? 2 c.379C>T
    + c.1016C>T
- p.R127W CYP27A1_00010 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 2 c.379C>T
    + c.1184+1G>A
- p.R127W CYP27A1_00010 dbSNP Cerebrotendinous Xanthomatosis [Verrips et al., 2000] - -
?/? 2 c.379C>T
    + c.1016C>T
- p.R127W CYP27A1_00010 dbSNP Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 2 c.380G>A
    + c.850A>T
- p.R127Q CYP27A1_00013 - Cerebrotendinous Xanthomatosis Watts et al., 1996 - -
?/? 2 c.380G>A
    + c.446+1G>A
- p.R127Q CYP27A1_00013 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 2 c.380G>A
    + c.1184+1G>A
- p.R127Q CYP27A1_00013 - Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 2 c.399G>A
    + c.1184G>A
- p.W133X CYP27A1_00016 - Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 2 c.409C>T
    + c.409C>T
- p.R137W CYP27A1_00018 dbSNP Cerebrotendinous Xanthomatosis Nakashima et al., 1994 - -
?/? 2 c.409C>T
    + c.646G>C
- p.R137W CYP27A1_00018 dbSNP Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 2 c.409C>T
    + c.1016C>T
- p.R137W CYP27A1_00018 dbSNP Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 2 c.409C>T
    + c.305delC
- p.R137W CYP27A1_00018 dbSNP Cerebrotendinous Xanthomatosis Chen et al., 2011 - -
?/? 2 c.410G>A
    + c.1421G>A
G-to-A mutation in exon 2 (R104Q) p.R137Q CYP27A1_00058 - Cerebrotendinous Xanthomatosis Nozue et al., 2010 - -
?/? 2 c.433G>A
    + c.433G>A
- p.G145R CYP27A1_00054 - Cerebrotendinous Xanthomatosis Federico et al., 2010 - -
+/? 2 c.434G>A
    + c.438G>A, c.944_948del
- p.G145E CYP27A1_00020 dbSNP Cerebrotendinous Xanthomatosis Lamon-Fava et al., 2002 - -
?/? 2 c.438G>A
    + c.434G>A, c.944_948del
- p.P146P CYP27A1_00022 - Cerebrotendinous Xanthomatosis Lamon-Fava et al., 2002 - -
?/? 2i c.446+1G>A
    + c.380G>A
- - CYP27A1_00015 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 3 c.475C>T
    + c.1183C>T
- p.Q159X CYP27A1_00023 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1996 - -
?/? 3 c.525-526delG
    + c.525-526delG
(cDNA) 546/547 G deletion leading to a frameshift p.T175TfsX7 CYP27A1_00024 - Cerebrotendinous Xanthomatosis Verrips et al., 1996 - -
?/? 3 c.583G>T
    + c.583G>T
- p.E195X CYP27A1_00025 - Cerebrotendinous Xanthomatosis Wakamatsu et al., 1999 - -
?/? 3 c.646G>C
    + c.409C>T
- p.A216P CYP27A1_00019 dbSNP Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 3 c.646G>C
    + c.646G>C
- p.A216P CYP27A1_00019 dbSNP Cerebrotendinous Xanthomatosis Garuti et al., 1996 - -
?/? 3 c.646G>C
    + c.646G>C
- p.A216P CYP27A1_00019 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 3 c.646G>C
    + c.1184+1G>A
- p.A216P CYP27A1_00019 dbSNP Cerebrotendinous Xanthomatosis Garuti et al., 1997 - -
?/? 3 c.646G>C
    + c.1263+5G>T
- p.A216P CYP27A1_00019 dbSNP Cerebrotendinous Xanthomatosis Garuti et al., 1997 - -
?/? 3i c.647-1G>T
    + c.1183C>T
- - CYP27A1_00057 - Cerebrotendinous Xanthomatosis Federico et al., 2010 - -
?/? 4 c.691C>T
    + c.1263+1G>A
- p.R231X CYP27A1_00027 dbSNP Cerebrotendinous Xanthomatosis Garuti et al., 1997 - -
?/? 4 c.745C>T
    + c.1263+1G>A
- p.R249X CYP27A1_00029 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 4 c.752C>A
    + c.752C>A
- p.S251X CYP27A1_00055 - Cerebrotendinous Xanthomatosis Federico et al., 2010 - -
?/? 4 c.752C>A
    + c.1263+5G>T
- p.S251X CYP27A1_00055 - Cerebrotendinous Xanthomatosis Federico et al., 2010 - -
?/? 4 c.776A>G
    + c.779G>A
- p.K259R CYP27A1_00030 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 4 c.776A>G
    + c.1183C>T
- p.K259R CYP27A1_00030 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 4 c.779G>A
    + c.776A>G
- p.W260X CYP27A1_00031 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 4 c.808C>T
    + c.5_6insC, c.1151C>T
- p.R270X CYP27A1_00003 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 4 c.808C>T
    + c.808C>T
- p.R270X CYP27A1_00003 dbSNP Cerebrotendinous Xanthomatosis Ahmed et al., 1997 - -
?/? 4 c.819delT
    + c.819delT
Deletion of thymidine in exon 4 p.D273EfsX13 CYP27A1_00032 - Cerebrotendinous Xanthomatosis Leitersdorf et al., 1993 - -
?/? 4 c.819delT
    + c.819delT
Deletion of thymidine in exon 4 p.D273EfsX13 CYP27A1_00032 - Cerebrotendinous Xanthomatosis Leitersdorf et al., 1993 - -
?/? 4i c.844+1G>A
    + c.844+1G>A
- - CYP27A1_00033 - Cerebrotendinous Xanthomatosis Verrips et al., 1997 - -
?/? 4i c.844+1G>A
    + c.1183C>T
- - CYP27A1_00033 - Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 4i c.844+1G>A
    + c.1263+1G>A
- - CYP27A1_00033 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 4i c.845-1G>A
    + c.845-1G>A
- - CYP27A1_00034 - Cerebrotendinous Xanthomatosis Leitersdorf et al., 1993 - -
?/? 5 c.850A>T
    + c.380G>A
- p.K284X CYP27A1_00014 dbSNP Cerebrotendinous Xanthomatosis Watts et al., 1996 - -
?/? 5 c.850A>T
    + c.850A>T
- p.K284X CYP27A1_00014 dbSNP Cerebrotendinous Xanthomatosis Meiner et al., 1994 - -
?/? 5 c.850A>T
    + c.1016C>T
- p.K284X CYP27A1_00014 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 5 c.863delA
    + c.1183C>T
- p.E288fs CYP27A1_00056 - Cerebrotendinous Xanthomatosis Federico et al., 2010 - -
?/? 5 c.944_948del
    + c.434G>A, c.438G>A
- p.L315QfsX15 CYP27A1_00021 - Cerebrotendinous Xanthomatosis Lamon-Fava et al., 2002 - -
?/? 5 c.1016C>T
    + c.379C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 5 c.1016C>T
    + c.379C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 5 c.1016C>T
    + c.409C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 5 c.1016C>T
    + c.850A>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 5 c.1016C>T
    + c.1016C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Reshef et al., 1994 - -
?/? 5 c.1016C>T
    + c.1016C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 5 c.1016C>T
    + c.1016C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 5 c.1016C>T
    + c.1016C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 5 c.1016C>T
    + c.1016C>T, c.1415G>C, c.1415G>C
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 5 c.1016C>T
    + c.1183C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 5 c.1016C>T
    + c.1263+1G>A
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 5 c.1016C>T
    + c.1263+1G>A
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 5 c.1016C>T
    + c.1435C>G
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis Guyant-Maréchal et al., 2005 - -
?/? 5 c.1016C>T
    + c.1537C>T
- p.T339M CYP27A1_00011 dbSNP Cerebrotendinous Xanthomatosis De la Fuente et al., 2011 - -
?/? 6 c.1028C>G
    + c.1213C>T
- p.T343R CYP27A1_00065 - Cerebrotendinous Xanthomatosis De la Fuente et al., 2011 - -
?/? 6 c.1043_1054delTGTACCACCTCT
    + c.1183C>T
- p.L348PfsX66 CYP27A1_00062 - Cerebrotendinous Xanthomatosis De la Fuente et al., 2011 - -
?/? 6 c.1043_1054delTGTACCACCTCT
    + c.1043_1054delTGTACCACCTCT
- p.L348PfsX66 CYP27A1_00062 - Cerebrotendinous Xanthomatosis De la Fuente et al., 2011 - -
?/? 6 c.1043_1054delTGTACCACCTCT
    + c.1043_1054delTGTACCACCTCT
- p.L348PfsX66 CYP27A1_00062 - Cerebrotendinous Xanthomatosis De la Fuente et al., 2011 - -
?/? 6 c.1043_1054delTGTACCACCTCT
    + c.1183C>T
- p.L348PfsX66 CYP27A1_00062 - Cerebrotendinous Xanthomatosis De la Fuente et al., 2011 - -
+/? 6 c.1061A>G
    + c.1184+1G>A
- p.D354G CYP27A1_00037 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1146_1151delins
    + c.1214G>A
- p.H382QfsX26 CYP27A1_00066 - Cerebrotendinous Xanthomatosis Suh et al., 2012 - -
?/? 6 c.1146_1151delins
    + c.1214G>A
- p.H382QfsX26 CYP27A1_00066 - Cerebrotendinous Xanthomatosis Suh et al., 2012 - -
?/? 6 c.1151C>T
    + c.5_6insC, c.5_6insC, c.1151C>T
- p.P384L CYP27A1_00002 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1151C>T
    + c.5_6insC, c.808C>T
- - CYP27A1_00002 - Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1151C>T
    + c.5_6insC, c.1183C>T
- p.P384L CYP27A1_00002 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1151C>T
    + c.5_6insC
- p.P384L CYP27A1_00002 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1180_1181del - - CYP27A1_00038 - Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
?/? 6 c.1183C>A
    + c.1183C>A
- p.R395S CYP27A1_00041 dbSNP Cerebrotendinous Xanthomatosis Chen et al., 1998 - -
+/? 6 c.1183C>T
    + c.5_6insC, c.1151C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1183C>T
    + c.475C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1996 - -
?/? 6 c.1183C>T
    + c.776A>G
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1183C>T
    + c.844+1G>A
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 6 c.1183C>T
    + c.1016C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 1999 - -
?/? 6 c.1183C>T
    + c.1183C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Cali et al., 1991 - -
?/? 6 c.1183C>T
    + c.1183C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1183C>T
    + c.1183C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1183C>T
    + c.1183C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1183C>T
    + c.1263+1G>A
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Verrips et al., 2000 - -
?/? 6 c.1183C>T
    + c.1321C>T
- p.R395C CYP27A1_00004 dbSNP Cerebrotendinous Xanthomatosis Lee et al., 2001 - -
1 - 100
[<-] 1 2 [->]


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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation.