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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0002767)
Patient ID UK0304200012
Disease Usher type I (USH1)
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 No known pathogenicity
Location Intron
Exon 07i
DNA change c.736-47C>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks Neutral
dbSNP/RFC rs3737454
Reference Le Quesne Stabej et al., 2012
Reported effect / publication Neutral
Frequency -
Missense -
HSF HSF
Re-site -BseRI
DB-ID MYO7A_00095

2 entries in CDH23

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 Intron 13i c.1449+1446C>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +StuI;-Sau96I;-HpyAV;-EcoO109I; CDH23_00218
-/? Paternal (confirmed) Exon 15 c.1595C>T r.(?) p.(Thr532Met) Cadherin 5 (461-561) Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 0/878 controls USMA MSV3d HSF +BclI;+MslI; CDH23_00219

7 entries 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 Intron 07i c.736-47C>A r.(=) p.(=) - Heterozygous Neutral rs3737454 Le Quesne Stabej et al., 2012 Neutral - - HSF -BseRI MYO7A_00095
-/- Unknown Intron 14i c.1797+267G>A r.(=) p.(=) - Heterozygous Neutral rs2276280 Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF none MYO7A_00383
-/- Unknown Exon 35 c.4755C>T r.(?) p.(=) FERM 1 (1258-1602) Heterozygous Neutral rs7927472 Le Quesne Stabej et al., 2012 Neutral - - HSF +BsrI;-BsrDI; MYO7A_00039
-/- Unknown Exon 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Heterozygous Neutral rs2276288 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF -TspRI MYO7A_00054
+/+ Maternal (confirmed) Exon 37 c.5101C>T r.(?) p.(Arg1701*) - Heterozygous Pathogenic rs111033182 Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls - HSF +Hpy166II MYO7A_00139
-/- Unknown Exon 43 c.5860C>A r.(?) p.(Leu1954Ile) FERM 2 (1902-2205) Heterozygous Neutral rs948962 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF -Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI; MYO7A_00053
-/- Unknown Exon 46 c.6240C>T r.(?) p.(=) FERM 2 (1902-2205) Heterozygous Neutral rs41298757 Le Quesne Stabej et al., 2012 Neutral - - HSF -BccI MYO7A_00036

1 entry in PCDH15

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 Intron 04i c.319-20A>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 - - HSF -SfaNI PCDH15_00110

1 entry 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
-/? Unknown Exon 64 c.14074G>A r.(?) p.(Gly4692Arg) Fibronectin type-III 32 (4633-4730) Heterozygous UV1 rs45549044 Le Quesne Stabej et al., 2012 UV1 - USMA MSV3d HSF none USH2A_00164

2 entries in WHRN

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 Intron 01i c.618+931G>T r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed - - HSF none WHRN_00050
-/? Unknown Exon 09 c.2118A>G r.(?) p.(=) Proline rich (581-712) Heterozygous UV1 - Le Quesne Stabej et al., 2012 UV1 - - HSF +Tsp45I;-BccI; WHRN_00049