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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0000945)
Patient ID SP0187900010
Disease Usher type I (USH1)
Reference Najera et al., 2002
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender Female
Geographic origin SPAIN
Submitter Jose Maria Millan

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Location Intron
Exon 06i
DNA change c.593-5C>T   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(?)
Protein Domain -
Inheritance Heterozygous
Variant remarks UV2
dbSNP/RFC rs762666
Reference -
Reported effect / publication -
Frequency -
Missense -
HSF HSF
Re-site +PstI;+HpyCH4V;+SfcI;-AciI;
DB-ID MYO7A_00298

17 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
-?/? Unknown Intron 06i c.593-5C>T r.(?) p.(?) - Heterozygous UV2 rs762666 - - - - HSF +PstI;+HpyCH4V;+SfcI;-AciI; MYO7A_00298
-/- Unknown Exon 08 c.783T>C r.(?) p.(=) Motor domain (1-729) Heterozygous Neutral rs762667 - - - - HSF +FatI;+NlaIII;+CviAII; MYO7A_00047
-/- Unknown Intron 10i c.1080+65T>C r.(=) p.(=) - Heterozygous Neutral rs4944145 - - - - HSF +BsrI;+TspRI;+BmrI; MYO7A_00060
-/- Unknown Intron 10i c.1081-78G>C r.(=) p.(=) - Heterozygous Neutral rs114524372 - - - - HSF - MYO7A_00287
-/- 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 Exon 21 c.2461C>T r.(?) p.(Gln821*) IQ 4 (814-834) Heterozygous Pathogenic - Najera et al., 2002 - - - HSF - MYO7A_00159
-/- 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+11_3503+32del22 r.(=) p.(=) - Heterozygous Neutral - - - - - HSF - MYO7A_00289
-/- 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 Exon 41 c.5715A>G r.(?) p.(=) FERM 2 (1902-2205) Heterozygous Neutral rs2276293 - - - - HSF none MYO7A_00038
-/- Unknown Intron 41i c.5743-12T>C r.(=) p.(=) - Heterozygous 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 47i c.6438+50A>T r.(=) p.(=) - Heterozygous Neutral rs2276289 - - - - HSF +BspCNI;+MnlI;+Hpy188I;+DdeI; MYO7A_00024