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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0002934)
Patient ID UK0370400012
Disease Usher type I (USH1)
Reference Le Quesne Stabej et al., 2012, United Kingdom (Great Britain):LONDON
Template DNA
Technique SEQ
Remarks Proband
# Reported 1
Gender -
Geographic origin U.K.
Submitter Maria Bitner-Glindzicz

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Location Intron
Exon 07i
DNA change c.736-47C>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(=)
Protein p.(=)
Protein Domain -
Inheritance Heterozygous
Variant remarks Neutral
dbSNP/RFC rs3737454
Reference Le Quesne Stabej et al., 2012
Reported effect / publication Neutral
Frequency -
Missense -
HSF HSF
Re-site -BseRI
DB-ID MYO7A_00095

1 entry in GPR98

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 86 c.18273A>G r.(?) p.(=) Cytoplasmic 3(6081-6104) Heterozygous UV1 rs148171369 Le Quesne Stabej et al., 2012 UV1 2/864 controls - HSF -NdeI GPR98_00153

2 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 07i c.736-47C>A r.(=) p.(=) - Heterozygous Neutral rs3737454 Le Quesne Stabej et al., 2012 Neutral - - HSF -BseRI MYO7A_00095
-/- Unknown Intron 12i c.1343+8G>A r.(=) p.(=) - Heterozygous Neutral rs2276278 Le Quesne Stabej et al., 2012 Neutral - - HSF +FatI;+NlaIII;+CviAII;-BstUI; MYO7A_00093

6 entries in USH1C

Path.
Allele Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
Exon historical 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) Intron 05i 05i c.496+1G>A r.? p.? - Homozygous Pathogenic rs138138689 Le Quesne Stabej et al., 2012 Pathogenic - - HSF +FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI; USH1C_00033
+/+ Maternal (inferred) Intron 05i 05i c.496+1G>A r.? p.? - Homozygous Pathogenic rs138138689 Le Quesne Stabej et al., 2012 Pathogenic - - HSF +FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI; USH1C_00033
-/- Paternal (inferred) Exon 18 D c.2340C>T r.(?) p.(=) PDZ 3 (752-825) Homozygous Neutral rs10832796 Le Quesne Stabej et al., 2012 UV1 - - HSF none USH1C_00050
-/- Maternal (inferred) Exon 18 D c.2340C>T r.(?) p.(=) PDZ 3 (752-825) Homozygous Neutral rs10832796 Le Quesne Stabej et al., 2012 UV1 - - HSF none USH1C_00050
-/- Paternal (inferred) Exon 24 19 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) Homozygous Neutral rs1064074 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; USH1C_00008
-/- Maternal (inferred) Exon 24 19 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) Homozygous Neutral rs1064074 Le Quesne Stabej et al., 2012 Neutral - USMA MSV3d HSF +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; USH1C_00008