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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0001106)
Patient ID FR0164917521
Disease Usher type I (USH1)
Reference Roux et al., 2011
Template DNA
Technique Minigene, SEQ
Remarks Proband
# Reported 1
Gender Male
Geographic origin FRANCE
Submitter Anne-Françoise Roux

Variant data
Allele Parent #1
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Location Exon
Exon 05
DNA change c.397C>T   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(His133Tyr)
Protein Domain Motor domain (1-729)
Inheritance Heterozygous
Variant remarks UV3
dbSNP/RFC rs111033403
Reference Roux et al., 2011
Reported effect / publication -
Frequency -
Missense USMA MSV3d
HSF HSF
Re-site -
DB-ID MYO7A_00272

13 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
-/- Paternal (inferred) Exon 03 c.47T>C r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031
-/- Maternal (inferred) Exon 03 c.47T>C r.(?) p.(Leu16Ser) - Homozygous Neutral rs1052030 - - - USMA MSV3d HSF +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; MYO7A_00031
+?/? Parent #1 Exon 05 c.397C>T r.(?) p.(His133Tyr) Motor domain (1-729) Heterozygous UV3 rs111033403 Roux et al., 2011 - - USMA MSV3d HSF - MYO7A_00272
-/? Parent #2 Exon 12 c.1209C>T r.(?) p.(=) Motor domain (1-729) Heterozygous UV1 - - - - - HSF - MYO7A_00271
-/- Unknown Intron 16i c.1936-23G>A r.(=) p.(=) - Heterozygous Neutral rs2276283 - - - - HSF -SfaNI MYO7A_00046
-/- Unknown Intron 22i c.2695-58C>G r.(=) p.(=) - Heterozygous Neutral - - - - - HSF -DdeI;-BspCNI;-Bsu36I; MYO7A_00119
-/- 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
-/? Parent #1 Intron 30i c.3925-8G>A r.= p.= - Heterozygous UV1 - Le Guédard-Méreuze et al., 2010 No effect on splicing (minigene) 0/200 controls - HSF +CviQI;+RsaI;-Bsp1286I;-BaeGI; MYO7A_00273
-/- 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 Exon 41 c.5715A>G r.(?) p.(=) FERM 2 (1902-2205) Heterozygous Neutral rs2276293 - - - - HSF none MYO7A_00038
+/? Parent #2 Exon 43 c.5944G>A r.5857_5944del p.Val1953Glufs*12 FERM 2 (1902-2205) Heterozygous UV4 - Le Guédard-Méreuze et al., 2010 E43 skipping 0/200 controls - HSF none MYO7A_00239