RGD:8606023 Rat Genome Database

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Variant: RGD:8606023 -  Homo sapiens

RGD ID: 8606023
RS ID: rs111033233
ClinVar ID: CV52366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO7A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 76,892,635
GRCh38 11 77,181,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000011.10:g.77181589G>T
NC_000011.9:g.76892635G>T
NP_000251.3:p.Glu968Asp
NG_009086.2:g.58344G>T
More... 		08/03/2022 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 1-9 / 100 000 Deafness, autosomal recessive 2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; none provided; Usher syndrome type IB
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYO7A
Accession:XM_047426972
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017788
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017785
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426973
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001127180
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017784
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017781
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017780
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017779
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545050
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017786
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545046
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426970
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_000260
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017787
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001369365
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545044
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017778
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017782
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017783
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426971
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426974
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:10930322   PMID:15660226   PMID:17576681   PMID:19074810   PMID:22135276   PMID:24033266   PMID:24199935   PMID:25468891   PMID:25472526   PMID:25741868   PMID:26969326  
PMID:27460420   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036100 CLINVAR
  RCV000414534 CLINVAR
  RCV001580451 CLINVAR
  RCV003114213 CLINVAR
dbSNP (RS) rs111033233 CLINVAR
MedGen C1838701 CLINVAR
  C2931206 CLINVAR
  C3661900 CLINVAR
  C5680250 CLINVAR
NCBI Gene MYO7A CLINVAR
OMIM 276903 CLINVAR
  600060 CLINVAR