LOVD - Variant listings for ATP7A

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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19 entries
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Exon Hide Exon column Descending
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DNA change   Descending
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DNA published Hide DNA published 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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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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Reference Hide Reference column Descending
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Variant remarks Hide Variant remarks column Descending
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Technique Hide Technique column Descending
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- c.?
  (Reported 17 times)
ins -1157C - - - - ATP7A_00261 Gu 2001 - - -
1 c.-55T>C 91T>C - - - - ATP7A_00279 Tumer unpublished, Gu 2001, Watanabe 2005 - - -
02i c.121-796GT(16_25) (CA)A in intron 2 - p.= - - ATP7A_00280 Beggy 1995 6 observed (GT) alleles, n= 16, 20, 21, 22, 23, 25 - -
i2i c.2626+7G>T IVS12+7G>T - p.= - - ATP7A_00290 Hahn 2001 - - -
3 c.327G>A
  (Reported 2 times)
472G>A (K109K) - p.(Lys109Lys) - - ATP7A_00281 Poulsen 2002a - - -
4 c.1299A>T 1444A>T (G433G) - p.(Glu433Glu) - - ATP7A_00282 Gu 2001 - - -
5 c.1387C>T 1535C>T (L464L) - p.(Leu463Leu) - - ATP7A_00284 Ogawa 2000, Gu 2001, Hahn 2001, Watanabe 2005 - - -
05i c.1544-272CA(19_24) (CA)B in intron 5 - p.= - - ATP7A_00283 Beggy 1995 6 observed (CA) alleles. n= 19, 20, 21, 22, 23, 24 - -
07i c.1870-25A>C IVS7-25A>C - p.= - - ATP7A_00285 Poulsen 2002a - - -
9 c.2006C>T 2151C>T (T669I) - p.(Thr669Ile) - - ATP7A_00286 Tümer unpublished, Ogawa 2000, Gu 2001, Hahn 2001, Watanabe 2005 - - -
9 c.2106G>T 2251G>T (E702D) - p.(Glu702Asp) - - ATP7A_00287 Gu 2001 - - -
9 c.2108G>A 2253G>A (R703H) - p.(Arg703His) - - ATP7A_00288 Ogawa 2000, Gu 2001, Hahn 2001 - - -
10 c.2299G>C 2444G>C (V767L) - p.(Val767Leu) - - ATP7A_00289 Das 1994, Tümer 1997, Ogawa 2000, Gu 2001, Zhang 2008 - - -
13i c.2782-29>A IVS13-29C>A - p.= - - ATP7A_00291 Poulsen 2002a - - -
17i c.3512-10C>A IVS17-10C>A - p.= - - ATP7A_00292 Gu 2001 - - -
18 c.3532C>T 3677C>T (H1178Y) - p.(His1178Tyr) - - ATP7A_00293 Tumer unpublished, Ogawa 2000, Gu 2001, Hahn 2001, Mak 2002, Poulsen 2002a, Watanabe 2005 - - -
22i c.4226+11T>C IVS22>+11T>C - p.= - - ATP7A_00294 Poulsen 2002a - - -
22i c.4226+48A>G IVS22>+48A>G - p.= - - ATP7A_00295 Poulsen 2002a - - -
23 c.4390A>G 4535A>G (I1464V) - p.(Ile1464Val) - - ATP7A_00296 Ogawa 2000, Gu 2001 - - -
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The allelic variants listed here are a collection of those we have found in literature and which were submitted directly to the database. When you notice that we have missed allelic variants or when you detect mistakes, please let us know.



Legend: [ ATP7A 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: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: 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. ATP7A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Variant remarks: Variant remarks Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein.