RGD:13435416 Rat Genome Database

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Variant: RGD:13435416 -  Homo sapiens

RGD ID: 13435416
RS ID: rs1171417339
ClinVar ID: CV431765
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO7A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 76,892,996
GRCh38 11 77,181,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000260.4:c.2905-1G>A
NG_009086.2:g.58705G>A
NC_000011.10:g.77181950G>A
NC_000011.9:g.76892996G>A
More... 		01/01/2015 splice acceptor variant likely pathogenic Usher Syndromes; Usher's syndrome
Disease Annotations     Click to see Annotation Detail View
Usher syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MYO7A
Accession:NM_000260
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545050
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017779
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017783
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017787
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545044
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017782
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426970
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426971
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017785
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017781
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017784
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017786
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426974
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017780
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001369365
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545046
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017788
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001127180
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017778
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426972
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426973
Location:INTRON

Gene Symbol:MYO7A
Accession:XR_001747889
Location:INTRON;NON-CODING

Gene Symbol:MYO7A
Accession:XR_001747888
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28041643  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000504686 CLINVAR
dbSNP (RS) rs1171417339 CLINVAR
MedGen C0271097 CLINVAR
NCBI Gene MYO7A CLINVAR
OMIM 276903 CLINVAR