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LOVD-USHBases

LOVD - Variant listings for MYO7A

About this overview [Show]

Patient data (#0000947)
Patient ID SP0193100011
Disease Usher type I (USH1)
Reference Jaijo et al., 2006
Template DNA
Technique Minigene, SEQ
Remarks Proband - Minigene studies in Aparisi et al., 2013
# Reported 1
Gender Male
Geographic origin SPAIN
Submitter Jose Maria Millan

Variant data
Allele Unknown
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 Jaijo et al., 2006
Reported effect / publication -
Frequency -
Missense USMA MSV3d
HSF HSF
Re-site none
DB-ID MYO7A_00118

10 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
-/- Unknown Intron 04i c.285+73C>T r.(=) p.(=) - Heterozygous Neutral rs4074664 - - - - HSF - MYO7A_00290
+/+ Unknown Exon 07 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Jaijo et al., 2006 - - 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 Exon 12 c.1342_1343delAG r.(?) p.(Ser448Leufs*2) Motor domain (1-729) Heterozygous UV4 - was shown in Aparisi et al., 2013 to affect splicing (p.(Asn443_Glu450del)) - Jaijo et al., 2006 New donor site (Aparisi et al., 2013) - - HSF - MYO7A_00187
-/- Paternal (inferred) Exon 35 c.4755C>T r.(?) p.(=) FERM 1 (1258-1602) Homozygous Neutral rs7927472 - - - - HSF +BsrI;-BsrDI; MYO7A_00039
-/- Maternal (inferred) Exon 35 c.4755C>T r.(?) p.(=) FERM 1 (1258-1602) Homozygous 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