LOVD - Variant listings for ITIH6

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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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Var_pub_as Hide Var_pub_as column Descending
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DB-ID Hide DB-ID column Descending
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Variant remarks Hide Variant remarks column Descending
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Reference Hide Reference column Descending
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Frequency Hide Frequency column Descending
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Re-site Hide Re-site column Descending
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Technique Hide Technique column Descending
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Genetic origin Hide Genetic origin column Descending
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- c.1159G>C r.(?) p.(Gly387Arg) - ITIH5L_00001 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.1288G>C r.(?) p.(Gly430Arg) - ITIH5L_00002 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.1739G>A r.(?) p.(Arg580His) - ITIH5L_00003 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.1995A>G r.(?) p.= K665K ITIH5L_00004 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.2104T>A r.(?) p.(Tyr702Asn) - ITIH5L_00005 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.2261C>T r.(?) p.(Thr754Met) - ITIH5L_00006 recurrent, found 3 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.3122G>C r.(?) p.(Trp1041Ser) - ITIH5L_00007 recurrent, found 22 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.3163A>G r.(?) p.(Ser1055Gly) - ITIH5L_00008 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
- c.670C>T r.(?) p.(Arg224*) - ITIH5L_00009 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) Tarpey 2009 - - DNA SEQ -
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Legend: [ ITIH6 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. Genomic Reference Sequence.
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. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Var_pub_as: What the variant was reported as. ITIH6 DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks Reference: Reference = reference to publication describing variant Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Template: Detection_Template Technique: Technique 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