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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0000768)
Patient ID FR0141910320
Disease Usher type I (USH1)
Reference Roux et al., 2011
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender Female
Geographic origin FRANCE
Submitter Anne-Françoise Roux

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Location Exon
Exon 07
DNA change c.640G>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Gly214Arg)
Protein Domain Motor domain (1-729)
Inheritance Heterozygous
Variant remarks Pathogenic
dbSNP/RFC rs111033283
Reference Roux et al., 2011
Reported effect / publication -
Frequency -
Missense USMA MSV3d
HSF HSF
Re-site none
DB-ID MYO7A_00118

46 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 Exon 03 c.47T>C r.(?) p.(Leu16Ser) - Heterozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031
+/+ Parent #1 Exon 07 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Roux et al., 2011 - - USMA MSV3d HSF none MYO7A_00118
-/- Unknown Intron 10i c.1080+65T>C r.(=) p.(=) - Heterozygous Neutral rs4944145 - - - - HSF +BsrI;+TspRI;+BmrI; MYO7A_00060
-/- Unknown Intron 16i c.1936-23G>A r.(=) p.(=) - Heterozygous Neutral rs2276283 - - - - HSF -SfaNI MYO7A_00046
-/- Unknown Intron 22i c.2694+58G>A r.(=) p.(=) - Heterozygous Neutral rs1109163 - - - - HSF +StyI;-AvaI;-BsoBI;-MnlI; MYO7A_00048
-/- Paternal (inferred) Intron 25i c.3285+79C>T r.(=) p.(=) - Homozygous Neutral - - - - - HSF - MYO7A_00110
-/- Maternal (inferred) Intron 25i c.3285+79C>T r.(=) p.(=) - Homozygous Neutral - - - - - HSF - MYO7A_00110
-/- Unknown Intron 26i c.3375+33G>C r.(=) p.(=) - Heterozygous Neutral rs948972 - - - - HSF -PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI; MYO7A_00071
-/- Unknown Intron 27i c.3503+12_3503+33del22 r.(=) p.(=) - Heterozygous Neutral rs111033223 - - - - HSF -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; MYO7A_00043
-/- Unknown Intron 30i c.3924+12C>T r.(=) p.(=) - Heterozygous Neutral rs2276285 - - - - HSF +PspGI;+BstNI;-HpaII;-NciI;-MspI; MYO7A_00042
-/- Unknown Intron 30i c.3924+84G>A r.(=) p.(=) - Heterozygous Neutral - - - - - HSF - MYO7A_00117
-/- Paternal (inferred) Intron 32i c.4323+35G>T r.(=) p.(=) - Homozygous Neutral rs1109977 - - - - HSF -BtsCI;-Hpy166II;-FokI; MYO7A_00041
-/- Maternal (inferred) Intron 32i c.4323+35G>T r.(=) p.(=) - Homozygous 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
-/- Paternal (inferred) Exon 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Homozygous Neutral rs2276288 - - - USMA MSV3d HSF -TspRI MYO7A_00054
-/- Maternal (inferred) Exon 36 c.4996A>T r.(?) p.(Ser1666Cys) SH3 (1603-1672) Homozygous Neutral rs2276288 - - - USMA MSV3d HSF -TspRI MYO7A_00054
-/- Unknown Exon 37 c.5156A>G r.(?) p.(Tyr1719Cys) - Heterozygous Neutral rs77625410 - - - USMA MSV3d HSF +Tsp45I MYO7A_00081
-/- Paternal (inferred) Intron 39i c.5481-83A>G r.(=) p.(=) - Homozygous Neutral rs11237121 - - - - HSF +HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII; MYO7A_00084
-/- Maternal (inferred) Intron 39i c.5481-83A>G r.(=) p.(=) - Homozygous Neutral rs11237121 - - - - HSF +HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII; MYO7A_00084
+/? Parent #2 Exon 40 c.5573T>C r.(?) p.(Leu1858Pro) MyTH4 2 (1747-1896) Heterozygous UV4 - Roux et al., 2011 - - USMA MSV3d HSF +FauI;+AciI;-PstI;-HpyCH4V;-SfcI; MYO7A_00080
-/- 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
-/- Paternal (inferred) Intron 41i c.5743-12T>C r.(=) p.(=) - Homozygous Neutral rs2276291 - - - - HSF +AciI;+HphI;-TspRI;-BtsI; MYO7A_00027
-/- Maternal (inferred) Intron 41i c.5743-12T>C r.(=) p.(=) - Homozygous Neutral rs2276291 - - - - HSF +AciI;+HphI;-TspRI;-BtsI; MYO7A_00027
-/- Unknown Intron 42i c.5856+50G>A r.(=) p.(=) - Heterozygous Neutral rs2276290 - - - - HSF none MYO7A_00026
-/- Unknown Intron 42i c.5857-7A>T r.(=) p.(=) - Heterozygous Neutral rs1320703 - - - - HSF +BsmFI;-AhdI; MYO7A_00052
-/- Paternal (inferred) Exon 43 c.5860C>A r.(?) p.(Leu1954Ile) FERM 2 (1902-2205) Homozygous Neutral rs948962 - - - USMA MSV3d HSF -Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI; MYO7A_00053
-/- Maternal (inferred) Exon 43 c.5860C>A r.(?) p.(Leu1954Ile) FERM 2 (1902-2205) Homozygous Neutral rs948962 - - - USMA MSV3d HSF -Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI; MYO7A_00053
-/- Paternal (inferred) Intron 43i c.5944+57G>A r.(=) p.(=) - Homozygous Neutral rs948961 - - - - HSF +DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI; MYO7A_00051
-/- Maternal (inferred) Intron 43i c.5944+57G>A r.(=) p.(=) - Homozygous Neutral rs948961 - - - - HSF +DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI; MYO7A_00051
-/- Paternal (inferred) Intron 43i c.5944+67C>T r.(=) p.(=) - Homozygous Neutral rs948960 - - - - HSF -BceAI MYO7A_00050
-/- Maternal (inferred) Intron 43i c.5944+67C>T r.(=) p.(=) - Homozygous 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.6240C>T r.(?) p.(=) FERM 2 (1902-2205) Heterozygous Neutral rs41298757 - - - - HSF -BccI MYO7A_00036
-/- Paternal (inferred) Exon 46 c.6318G>A r.(?) p.(=) FERM 2 (1902-2205) Homozygous Neutral rs11237123 - - - - HSF none MYO7A_00035
-/- Maternal (inferred) Exon 46 c.6318G>A r.(?) p.(=) FERM 2 (1902-2205) Homozygous Neutral rs11237123 - - - - HSF none MYO7A_00035
-/- Paternal (inferred) Intron 46i c.6354+35G>A r.(=) p.(=) - Homozygous Neutral - - - - - HSF +BseRI MYO7A_00034
-/- Maternal (inferred) Intron 46i c.6354+35G>A r.(=) p.(=) - Homozygous Neutral - - - - - HSF +BseRI MYO7A_00034
-/- Paternal (inferred) Intron 47i c.6438+50A>T r.(=) p.(=) - Homozygous Neutral rs2276289 - - - - HSF +BspCNI;+MnlI;+Hpy188I;+DdeI; MYO7A_00024
-/- Maternal (inferred) Intron 47i c.6438+50A>T r.(=) p.(=) - Homozygous Neutral rs2276289 - - - - HSF +BspCNI;+MnlI;+Hpy188I;+DdeI; MYO7A_00024
-/- Unknown Exon 48 c.6519C>T r.(?) p.(=) FERM 2 (1902-2205) Heterozygous Neutral rs111033230 - - - - HSF +Tsp509I;+ApoI; MYO7A_00116
-/- Unknown Intron 48i c.6558+16G>A r.(=) p.(=) - Heterozygous Neutral rs883224 - - - - HSF +BsrI;+BmrI;-MwoI;-BseYI ; MYO7A_00021
-/- Unknown Intron 48i c.6558+25A>G r.(=) p.(=) - Heterozygous Neutral - - - - - HSF +PspGI;+BssKI;+ScrFI;+StyD4I;+BstNI;-BfaI; MYO7A_00115
-/- 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
-/- Unknown Intron 48i c.6559-43T>C r.(=) p.(=) - Heterozygous Neutral rs112028203 - - - - HSF +NlaIV MYO7A_00114