LOVD - Variant listings for MAP7D3

About this overview [Show]

12 entries
entries per page

DB-ID Hide DB-ID column Descending
Ascending

DNA change   Descending
Ascending

Var_pub_as Hide Var_pub_as column Descending
Ascending

Template Hide Template column Descending
Ascending

do not use Hide do not use column Descending
Ascending

Exon Hide Exon column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Genetic origin Hide Genetic origin column Descending
Ascending

Protein Hide Protein column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Variant remarks Hide Variant remarks column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending
MAP7D3_00001 c.1728G>A p.M576I DNA SEQ - - - p.? r.(?) Tarpey 2009 found once, nonrecurrent change Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00002 c.1758G>A p.E586E DNA SEQ - - - p.? r.(?) Tarpey 2009 recurrent, found 10 times Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00003 c.1763C>T p.P588L DNA SEQ - - - p.? r.(?) Tarpey 2009 recurrent, found 2 times Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00004 c.2156C>T p.A719V DNA SEQ - - - p.? r.(?) Tarpey 2009 found once, nonrecurrent change Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00005 c.2396A>C p.E799A DNA SEQ - - - p.? r.(?) Tarpey 2009 recurrent, found 83 times Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00006 c.2774A>G - DNA SEQ - - - p.? r.(?) Tarpey 2009 found once, nonrecurrent change Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00007 c.3014G>A p.Q925R DNA SEQ - - - p.? r.(?) Tarpey 2009 recurrent, found 96 times Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00008 c.360G>A p.R1005Q DNA SEQ - - - p.? r.(?) Tarpey 2009 recurrent, found 2 times Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00009 c.387T>C p.E120E DNA SEQ - - - p.? r.(?) Tarpey 2009 recurrent, found 30 times Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00010 c.449C>G p.F129F DNA SEQ - - - p.? r.(?) Tarpey 2009 recurrent, found 2 times Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00011 c.468C>T p.S150C DNA SEQ - - - p.? r.(?) Tarpey 2009 found once, nonrecurrent change Variant and/or predicted effect could not be not confirmed by curators -
MAP7D3_00012 c.IVS9+1G>C p.I156I DNA SEQ - - - p.? r.(?) Tarpey 2009 found once, nonrecurrent change Variant and/or predicted effect could not be not confirmed by curators -
1 - 12

Legend: [ MAP7D3 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.
MAP7D3 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.