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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0000758)
Patient ID FR0129906030
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 Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Location Intron
Exon 33i
DNA change c.4441+89T>C   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks Neutral
dbSNP/RFC rs11237115
Reference -
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site -BsrDI
DB-ID MYO7A_00040

26 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 #2 Intron 07i c.736-47C>A r.(=) p.(=) - Heterozygous Neutral rs3737454 Besnard, Garcia-Garcia et al., 2014 - - - 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 Besnard, Garcia-Garcia et al., 2014 - - - HSF - MYO7A_00094
-/- Unknown Intron 12i c.1343+8G>A r.(=) p.(=) - Heterozygous Neutral rs2276278 Besnard, Garcia-Garcia et al., 2014 - - - HSF +FatI;+NlaIII;+CviAII;-BstUI; MYO7A_00093
-/- Unknown Intron 16i c.1936-23G>A r.(=) p.(=) - Heterozygous Neutral rs2276283 - - - - HSF -SfaNI MYO7A_00046
-/- Parent #2 Intron 21i c.2586+43G>A r.(=) p.(=) - Heterozygous Neutral - - - - - HSF - MYO7A_00092
-/- Unknown Intron 22i c.2694+58G>A r.(=) p.(=) - Heterozygous Neutral rs1109163 - - - - HSF +StyI;-AvaI;-BsoBI;-MnlI; MYO7A_00048
-/- Unknown Intron 27i c.3503+12_3503+33del22 r.(=) p.(=) - Heterozygous Neutral rs111033223 - - - - HSF -Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1; MYO7A_00043
-/- Paternal (inferred) Intron 30i c.3924+12C>T r.(=) p.(=) - Homozygous Neutral rs2276285 - - - - HSF +PspGI;+BstNI;-HpaII;-NciI;-MspI; MYO7A_00042
-/- Maternal (inferred) Intron 30i c.3924+12C>T r.(=) p.(=) - Homozygous 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 Intron 33i c.4441+89T>C r.(=) p.(=) - Heterozygous Neutral rs11237115 - - - - HSF -BsrDI MYO7A_00040
-/- 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
-/- 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
-/- Parent #1 Intron 41i c.5743-12T>C r.(=) p.(=) - Heterozygous Neutral rs2276291 - - - - HSF +AciI;+HphI;-TspRI;-BtsI; MYO7A_00027
+/+ Parent #2 Intron 42i c.5856+1G>A r.(?) p.(?) - Heterozygous Pathogenic - Baux et al., 2008 - - - HSF - MYO7A_00091
-/- Parent #1 Intron 42i c.5856+50G>A r.(=) p.(=) - Heterozygous Neutral rs2276290 - - - - HSF none MYO7A_00026
+/+ Parent #1 Exon 43 c.5886_5889delCTTT r.(?) p.(Phe1962Leufs*7) FERM 2 (1902-2205) Heterozygous Pathogenic - Roux et al., 2011 - - - HSF - MYO7A_00089
-/- Unknown Intron 44i c.6051+17T>A r.(=) p.(=) - Heterozygous Neutral rs1320702 - - - - HSF +SpeI MYO7A_00025
-/- Unknown Intron 47i c.6438+50A>T r.(=) p.(=) - Heterozygous Neutral rs2276289 - - - - HSF +BspCNI;+MnlI;+Hpy188I;+DdeI; MYO7A_00024
-/- Parent #1 Intron 47i c.6439-31G>A r.(=) p.(=) - Heterozygous Neutral rs883223 - - - - HSF +FatI;+NlaIII;+CviAII;-BceAI; MYO7A_00090
-/- 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