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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0000949)
Patient ID SP0198600011
Disease Usher type I (USH1)
Reference Jaijo et al., 2006
Template DNA
Technique Minigene, SEQ
Remarks Proband
# Reported 1
Gender Male
Geographic origin SPAIN
Submitter Jose Maria Millan

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

14 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 04i c.285+73C>T r.(=) p.(=) - Heterozygous Neutral rs4074664 - - - - HSF - MYO7A_00290
+/+ Parent #1 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 Intron 17i c.2095-22G>A r.(=) p.(=) - Heterozygous Neutral - - - - - HSF - MYO7A_00288
-/- Unknown Intron 20i c.2367+67T>C r.(=) p.(=) - Heterozygous Neutral rs10793239 - - - - HSF +MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI; MYO7A_00059
-/- 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 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 41i c.5743-12T>C r.(=) p.(=) - Heterozygous Neutral rs2276291 - - - - HSF +AciI;+HphI;-TspRI;-BtsI; MYO7A_00027
+/+ Parent #2 Exon 42 c.5856G>A r.5743_5856del p.Ala1915_Lys1952del FERM 2 (1902-2205) Heterozygous Pathogenic - Jaijo et al., 2006 E42 skipping (Jaijo et al., 2010) 0/100 controls - HSF - MYO7A_00181
-/- Unknown Intron 42i c.5856+50G>A r.(=) p.(=) - Heterozygous Neutral rs2276290 - - - - HSF none MYO7A_00026
-/- Unknown Intron 44i c.6051+17T>A r.(=) p.(=) - Heterozygous Neutral rs1320702 - - - - HSF +SpeI MYO7A_00025
-/- Unknown Intron 47i c.6439-31G>A r.(=) p.(=) - Heterozygous Neutral rs883223 - - - - HSF +FatI;+NlaIII;+CviAII;-BceAI; MYO7A_00090