LOVD - Variant listings for GSPT2

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3 public entries
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?/? - ? ? - MRX unknown - - Raymond:Cambridge - 1 GSPT2_00001 c.1186G>A - DNA SEQ - - - p.A396T r.(?) Tarpey 2009 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) -
?/? - ? ? - MRX unknown - - Raymond:Cambridge - 1 GSPT2_00002 c.793A>G - DNA SEQ - - - p.K265E r.(?) Tarpey 2009 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) -
-?/? - ? ? - MRX unknown - - Raymond:Cambridge - 1 GSPT2_00003 c.919T>C p.L307L DNA SEQ - - - p.= r.(?) Tarpey 2009 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) -
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Legend: [ GSPT2 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Ethnic origin: Ethnic origin of patient Geographic origin: Geographic origin of patient Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) MR: MR Phenotype additional: Phenotype, additional features Reference: Reference describing the phenotype Remarks: Remarks # Reported: Number of times this case has been reported GSPT2 DB-ID: BD-ID = database IDentifier DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: What the variant was reported as. Template: Detection_Template do not use: do not use Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9 Frequency: Frequency if variant is non pathogenic. Genetic origin: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Reference: Reference = reference to publication describing variant Variant remarks: Variant remarks Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.