RGD:9690585 Rat Genome Database

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Variant: RGD:9690585 -  Homo sapiens

RGD ID: 9690585
RS ID: rs797044516
ClinVar ID: CV178280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO7A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 76,895,760
GRCh38 11 77,184,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.76895760G>A
NP_000251.3:p.Arg1168Gln
NP_001120652.1:p.Arg1168Gln
NG_009086.2:g.61470G>A
More... 		11/15/2019 missense variant pathogenic|likely pathogenic|uncertain significance AllHighlyPenetrant; Deafness, autosomal recessive 2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; none provided; Retinitis pigmentosa and congenital deafness; Usher syndrome type 1; Usher syndrome, type I, French variety; Usher Syndromes; Usher's syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYO7A
Accession:XM_017017780
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545046
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017781
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426974
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545044
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017779
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426972
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426973
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545050
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017788
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017778
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017783
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426971
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017784
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017785
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001127180
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017786
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001369365
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426970
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_000260
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017782
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017787
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:9536098   PMID:16470552   PMID:17576681   PMID:20052763   PMID:24033266   PMID:25404053   PMID:27460420   PMID:27957503   PMID:28492532   PMID:28944237   PMID:30459346   PMID:32531858  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000156269 CLINVAR
  RCV000623408 CLINVAR
  RCV000675162 CLINVAR
  RCV001004779 CLINVAR
  RCV001091732 CLINVAR
dbSNP (RS) rs797044516 CLINVAR
MedGen C0271097 CLINVAR
  C0950123 CLINVAR
  C1838701 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYO7A CLINVAR
OMIM 276900 CLINVAR
  276903 CLINVAR
  600060 CLINVAR