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LOVD-USHBases

LOVD - Variant listings for MYO7A

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-/? Intron 03i c.133-7C>T
    + USH2A (4), CLRN1 (1)
r.(=) p.(=) - Heterozygous UV1 rs111033221 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FauI;-NlaIV; MYO7A_00382 UK0303800012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/? Intron 03i c.133-7C>T
    + c.850-39A>G, c.5824G>T, USH2A (3), CDH23 (1)
r.(=) p.(=) - Heterozygous UV1 rs111033221 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FauI;-NlaIV; MYO7A_00382 UK0311000012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/? Intron 03i c.133-7C>T
    + 12 others
r.(=) p.(=) - Heterozygous UV1 rs111033221 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FauI;-NlaIV; MYO7A_00382 UK0339900012 Usher type I (USH1) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/? Intron 03i c.133-7C>T
    + PCDH15 (2), GPR98 (2), USH2A (2)
r.(=) p.(=) - Heterozygous UV1 rs111033221 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FauI;-NlaIV; MYO7A_00382 UK0340100012 Usher type II (USH2) Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
-/? Intron 03i c.133-7C>T
    + USH2A (2), PCDH15 (1), CDH23 (2)
r.(=) p.(=) - Heterozygous UV1 rs111033221 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FauI;-NlaIV; MYO7A_00382 UK0363100012 Atypical Usher Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON DNA SEQ Proband 1 - U.K.
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Legend: [ MYO7A 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Location: Variant location at DNA level. Exon: Exon numbering. 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. Protein Domain: Protein Domain Inheritance: Type of inheritance (e.g. heterozygous) Variant remarks: Integrates Classification: Neutral - UV1 (certainly neutral) - UV2 (likely neutral) - UV3 (likely pathogenic) - UV4 (certainly pathogenic) - Pathogenic. Except for CHM where annotations concerning the effect of the variant are mentioned instead.

dbSNP/RFC: Accession number (rs) in dbSNP or link to reading frame checker Reference: Reference describing the variation Reported effect / publication: Original classification reported by the authors. Frequency: Frequency (control chromosomes) Missense: Create a link for USMA and/or MSV3d HSF: Direct link to HSF Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. MYO7A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Remarks: remarks on patient. # Reported: Number of times this case has been reported Gender: Patient gender Geographic origin: Geographic origin of patient