LOVD - Variant listings for PCNT

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Patient data (#0003168)
Disease MOPD2
Phenotype additional -
Remarks -
Reference Willems et al. 2009
Geographic origin Morocco
Ethnic origin -
Inheritance unknown
Consang. -
Age_exam ?
Age_onset ?
MR No
# Reported 1
Submitter Emmelien Aten

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 17
DNA change c.3382C>G   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.(Gln1128Glu )
DB-ID PCNT_00005
Variant remarks -
Reference Willems et al. 2009
Template DNA
Technique SEQ
Frequency -
Re-site -
Genetic origin -

2 entries in PCNT

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
Re-site Descending
Ascending
Genetic origin Descending
Ascending
+/? Parent #1 17 c.3382C>G - r.(?) p.(Gln1128Glu ) PCNT_00005 - Willems et al. 2009 DNA SEQ - - -
+/? Parent #2 17 c.3382C>G - r.(?) p.(Gln1128Glu ) PCNT_00005 - Willems et al. 2009 DNA SEQ - - -