LOVD - Variant listings for MAP7D3

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Patient data (#0002125)
Disease MRX
Phenotype additional -
Remarks -
Reference Raymond:Cambridge
Geographic origin ?
Ethnic origin ?
Inheritance unknown
Consang. -
Age_exam -
Age_onset -
MR -
# Reported 2
Submitter Lucy Raymond

Variant data
Allele Parent #1
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon -
DNA change c.1763C>T
Var_pub_as p.P588L
RNA change r.(?)
Protein p.?
DB-ID MAP7D3_00003
Variant remarks recurrent, found 2 times
Variant and/or predicted effect could not be not confirmed by curators
Frequency -
Reference Tarpey 2009
Template DNA
do not use SEQ
Re-site -
Genetic origin -

1 entry in MAP7D3

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
Frequency Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
do not use Descending
Ascending
Re-site Descending
Ascending
Genetic origin Descending
Ascending
?/? Parent #1 - c.1763C>T p.P588L r.(?) p.? MAP7D3_00003 recurrent, found 2 times Variant and/or predicted effect could not be not confirmed by curators - Tarpey 2009 DNA SEQ - -