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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0002799)
Patient ID UK0314800012
Disease Usher type II (USH2)
Reference Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender -
Geographic origin U.K.
Submitter Maria Bitner-Glindzicz

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Location 5' UTR
Exon 00
DNA change c.-272-1986C>G   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks UV1
dbSNP/RFC -
Reference Le Quesne Stabej et al., 2012
Reported effect / publication Not Assessed
Frequency 0/96 controls
Missense -
HSF -
Re-site +MnlI;+HphI;-DdeI;-BspCNI;-AluI;-CviKI_1;
DB-ID MYO7A_00422

1 entry in MYO7A

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
-/? Unknown 5' UTR 00 c.-272-1986C>G r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - - +MnlI;+HphI;-DdeI;-BspCNI;-AluI;-CviKI_1; MYO7A_00422

4 entries in USH2A

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Protein Domain Descending
Ascending
Inheritance Descending
Ascending
Variant remarks Descending
Ascending
dbSNP/RFC Descending
Ascending
Reference Descending
Ascending
Reported effect / publication Descending
Ascending
Frequency Descending
Ascending
Missense Descending
Ascending
HSF Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
+/+ Maternal (inferred) Exon 13 c.2299delG r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Heterozygous Pathogenic rs80338903 Le Quesne Stabej et al., 2012 Pathogenic 2/846 controls - HSF none USH2A_00001
-/- Unknown Exon 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Heterozygous Neutral rs111033333 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF -AcuI USH2A_00038
+/+ Paternal (confirmed) Exon 27 c.[5299-932_5572+1023del;5572+1100_5573-1099del] r.(?) p.(Met1767Valfs*6) Laminin G-like 2 (1714-1891) Heterozygous Pathogenic - Steele-Stallard et al., 2013 Pathogenic - - - - USH2A_00797
-/- Unknown Exon 35 c.6713A>C r.(?) p.(Glu2238Ala) - Heterozygous Neutral rs41277212 Le Quesne Stabej et al., 2012 Neutral 4/89 controls USMA MSV3d HSF +HgaI;+AciI;-MnlI; USH2A_00062