LOVD - Variant listings for RLBP1

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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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6_9 c.525_945del
  (Reported 2 times)
- r.del p.(?) RLBP1_00001 segregates in family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -
1


Legend: [ RLBP1 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.
Exon: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein: Protein RLBP1 DB-ID: DB-ID Variant remarks: Variant remarks Origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Reference: Reference Detection/Template: Detection/Template Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ). Frequency: Frequency RE-site: RE-site