LOVD - Variant listings for NRK

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?/? Tarpey 2009 DNA SEQ - c.1072G>A p.V358M r.(?) p.Val358Met - - NRK_00003 recurrent, found 50 times - MRX - - Raymond:Cambridge ? ? unknown - - - - 50
?/? Tarpey 2009 DNA SEQ - c.2230C>A p.Q744K r.(?) p.Gln744Lys - - NRK_00001 found once, nonrecurrent change - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
?/? Tarpey 2009 DNA SEQ - c.2779A>G p.S927G r.(?) p.Ser927Gly - - NRK_00006 found once, nonrecurrent change - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
?/? Tarpey 2009 DNA SEQ - c.2912A>G p.D971G r.(?) p.Asp971Gly - - NRK_00005 found once, nonrecurrent change - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
?/? Tarpey 2009 DNA SEQ - c.3044C>T p.A1015V r.(?) p.Ala1015Val - - NRK_00004 found once, nonrecurrent change - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
?/? Tarpey 2009 DNA SEQ - c.4206A>G p.V1402V r.(?) p.=? - - NRK_00007 found once, nonrecurrent change - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
?/? Tarpey 2009 DNA SEQ - c.4495G>A p.D1499N r.(?) p.Asp1499Asn - - NRK_00002 found once, nonrecurrent change - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
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Legend: [ NRK 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. Reference: Reference = reference to publication describing variant 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 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. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. NRK DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks 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 Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Phenotype additional: Phenotype, additional features Remarks: Remarks Reference: Reference describing the phenotype Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient 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) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Age_exam: age at which the individual was examined; 4y8m = 4 years and 8 months Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months MR: MR # Reported: Number of times this case has been reported