LOVD - Variant listings for GUCY2F

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Exon Hide Exon column Descending
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DNA change   Descending
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Var_pub_as Hide Var_pub_as column Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein 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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Frequency Hide Frequency column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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do not use Hide do not use column Descending
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Re-site Hide Re-site column Descending
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Genetic origin Hide Genetic origin column Descending
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- c.1140G>T - r.(?) p.Q380H GUCY2F_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.1883G>A - r.(?) p.R628Q GUCY2F_00002 recurrent, found 4 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Tarpey 2009 DNA SEQ - -
- c.2029G>C - r.(?) p.V677L GUCY2F_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.2050C>T p.L684L r.(?) p.= GUCY2F_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.2380G>A - r.(?) p.E794K GUCY2F_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.479T>A - r.(?) p.I160N GUCY2F_00006 recurrent, found 2 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Tarpey 2009 DNA SEQ - -
- c.688C>T - r.(?) p.R230W GUCY2F_00007 recurrent, found 2 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Tarpey 2009 DNA SEQ - -
- c.851T>C - r.(?) p.L284P GUCY2F_00008 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.887G>A - r.(?) p.R296Q GUCY2F_00009 recurrent, found 8 times; 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: [ GUCY2F 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.
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. GUCY2F DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic. Reference: Reference = reference to publication describing variant Template: Detection_Template do not use: do not use Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. 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