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LOVD-USHBases

LOVD - Variant listings for MYO7A

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Patient data (#0002776)
Patient ID UK0306800012
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 Maternal (confirmed)
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 Le Quesne Stabej et al., 2012
Reported effect / publication Pathogenic
Frequency 0/878 controls
Missense USMA MSV3d
HSF HSF
Re-site none
DB-ID MYO7A_00118

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 Intron 26i c.5525-7C>T r.(=) p.(=) - Heterozygous UV1 rs141528121 Le Quesne Stabej et al., 2012 UV1 0/96 controls - HSF -FatI;-NlaIII;-CviAII;-XmnI; GPR98_00036

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
+/+ Paternal (confirmed) Exon 07 c.635G>A r.(?) p.(Arg212His) Motor domain (1-729) Heterozygous Pathogenic rs28934610 Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls USMA MSV3d HSF -BceAI MYO7A_00004
+/+ Maternal (confirmed) Exon 07 c.640G>A r.(?) p.(Gly214Arg) Motor domain (1-729) Heterozygous Pathogenic rs111033283 Le Quesne Stabej et al., 2012 Pathogenic 0/878 controls USMA MSV3d HSF none MYO7A_00118

1 entry 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
-/? Unknown Intron 11i 11i c.820-51G>A r.(=) p.(=) - Heterozygous UV1 - Le Quesne Stabej et al., 2012 Not Assessed 0/96 controls - HSF +BfaI;-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI; USH1C_00061

1 entry in USH2A

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 35 c.6713A>C r.(?) p.(Glu2238Ala) - Heterozygous Neutral rs41277212 Le Quesne Stabej et al., 2012 Neutral 4/89 controls USMA MSV3d HSF +HgaI;+AciI;-MnlI; USH2A_00062

1 entry in WHRN

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 05i c.1204-33G>A r.(=) p.(=) - Heterozygous UV1 rs78371346 Le Quesne Stabej et al., 2012 Not Assessed - - HSF -DdeI;-EcoRI; WHRN_00051