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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0000772)
Patient ID FR0152013611
Disease Usher type I (USH1)
Reference Roux et al., 2011
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender Male
Geographic origin FRANCE
Submitter Anne-Françoise Roux

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 -
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site -BseRI
DB-ID MYO7A_00095

30 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 - - - - HSF -BseRI MYO7A_00095
-/- Unknown Exon 08 c.783T>C r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047
-/- Unknown Intron 09i c.1004-35C>G r.(=) p.(=) - Heterozygous Neutral rs2071151 - - - - HSF - MYO7A_00094
-/- Unknown Intron 12i c.1343+8G>A r.(=) p.(=) - Heterozygous Neutral rs2276278 - - - - HSF +FatI;+NlaIII;+CviAII;-BstUI; MYO7A_00093
-/- Unknown Intron 12i c.1343+32C>T r.(=) p.(=) - Heterozygous Neutral rs41298139 - - - - HSF - MYO7A_00122
-/- Unknown Intron 16i c.1936-23G>A r.(=) p.(=) - Heterozygous Neutral rs2276283 - - - - HSF -SfaNI MYO7A_00046
+/+ Unknown Intron 19i c.2283-1G>T r.(2283_2367del) p.(Ser762Cysfs*61) IQ 1 (745-765) Heterozygous Pathogenic - Roux et al., 2011 - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00086
-/- Unknown Intron 22i c.2695-58C>G r.(=) p.(=) - Heterozygous Neutral - - - - - HSF -DdeI;-BspCNI;-Bsu36I; MYO7A_00119
-/- Unknown Intron 23i c.2905-54A>T r.(=) p.(=) - Heterozygous Neutral - - - - - HSF - MYO7A_00121
-/- Unknown Intron 26i c.3375+33G>C r.(=) p.(=) - Heterozygous Neutral rs948972 - - - - HSF -PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI; MYO7A_00071
-/- Unknown Intron 30i c.3924+12C>T r.(=) p.(=) - Heterozygous Neutral rs2276285 - - - - HSF +PspGI;+BstNI;-HpaII;-NciI;-MspI; MYO7A_00042
-/- Unknown Intron 32i c.4323+35G>T r.(=) p.(=) - Heterozygous Neutral rs1109977 - - - - HSF -BtsCI;-Hpy166II;-FokI; MYO7A_00041
-/- Unknown Exon 35 c.4755C>T r.(?) p.(=) FERM 1 (1258-1602) Heterozygous Neutral rs7927472 - - - - HSF +BsrI;-BsrDI; MYO7A_00039
-/- Unknown Exon 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Heterozygous Neutral rs2276288 - - - USMA MSV3d HSF -TspRI MYO7A_00054
-/- Unknown Intron 39i c.5481-83A>G r.(=) p.(=) - Heterozygous Neutral rs11237121 - - - - HSF +HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII; MYO7A_00084
-/- Paternal (inferred) Exon 41 c.5715A>G r.(?) p.(=) FERM 2 (1902-2205) Homozygous Neutral rs2276293 - - - - HSF none MYO7A_00038
-/- Maternal (inferred) Exon 41 c.5715A>G r.(?) p.(=) FERM 2 (1902-2205) Homozygous Neutral rs2276293 - - - - HSF none MYO7A_00038
-/- Unknown Intron 41i c.5743-12T>C r.(=) p.(=) - Heterozygous Neutral rs2276291 - - - - HSF +AciI;+HphI;-TspRI;-BtsI; MYO7A_00027
-/- Unknown Intron 42i c.5857-7A>T r.(=) p.(=) - Heterozygous Neutral rs1320703 - - - - HSF +BsmFI;-AhdI; MYO7A_00052
-/- Unknown Exon 43 c.5860C>A r.(?) p.(Leu1954Ile) FERM 2 (1902-2205) Heterozygous Neutral rs948962 - - - USMA MSV3d HSF -Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI; MYO7A_00053
+?/? Unknown Exon 43 c.5886_5888delCTT r.(?) p.(Phe1963del) FERM 2 (1902-2205) Heterozygous UV3 rs111033232 Roux et al., 2011 - - - HSF -MboII MYO7A_00022
-/- Unknown Intron 43i c.5944+57G>A r.(=) p.(=) - Heterozygous Neutral rs948961 - - - - HSF +DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI; MYO7A_00051
-/- Unknown Intron 43i c.5944+67C>T r.(=) p.(=) - Heterozygous Neutral rs948960 - - - - HSF -BceAI MYO7A_00050
-/- Unknown Intron 44i c.6051+17T>A r.(=) p.(=) - Heterozygous Neutral rs1320702 - - - - HSF +SpeI MYO7A_00025
-/- Unknown Exon 46 c.6318G>A r.(?) p.(=) FERM 2 (1902-2205) Heterozygous Neutral rs11237123 - - - - HSF none MYO7A_00035
-/- Unknown Intron 46i c.6354+35G>A r.(=) p.(=) - Heterozygous Neutral - - - - - HSF +BseRI MYO7A_00034
-/- Paternal (inferred) Intron 48i c.6558+16G>A r.(=) p.(=) - Homozygous Neutral rs883224 - - - - HSF +BsrI;+BmrI;-MwoI;-BseYI ; MYO7A_00021
-/- Maternal (inferred) Intron 48i c.6558+16G>A r.(=) p.(=) - Homozygous Neutral rs883224 - - - - HSF +BsrI;+BmrI;-MwoI;-BseYI ; MYO7A_00021
-/- Paternal (inferred) Intron 48i c.6558+51G>T r.(=) p.(=) - Homozygous Neutral rs948959 - - - - HSF +DdeI;+BlpI;+AluI;+CviKI_1; MYO7A_00020
-/- Maternal (inferred) Intron 48i c.6558+51G>T r.(=) p.(=) - Homozygous Neutral rs948959 - - - - HSF +DdeI;+BlpI;+AluI;+CviKI_1; MYO7A_00020

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