RGD:8605979 Rat Genome Database

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Variant: RGD:8605979 -  Homo sapiens

RGD ID: 8605979
RS ID: rs606231379
ClinVar ID: CV52322
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: MYO7A  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 11 76,873,898
GRCh38 11 77,162,852
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
c.1556delG
NC_000011.9:g.76873900delG
NG_009086.2:g.39609del
NC_000011.10:g.77162854del
More... 		01/23/2012 frameshift variant pathogenic neonatal/infancy 1-9 / 100 000

Variant Details
Variant Transcripts
Gene Symbol:MYO7A
Accession:XM_011545046
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017780
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426971
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017778
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017785
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426972
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426974
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017783
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426970
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017781
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545044
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001127180
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_011545050
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017788
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017786
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017779
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_000260
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017784
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_017017782
Location:INTRON

Gene Symbol:MYO7A
Accession:NM_001369365
Location:INTRON

Gene Symbol:MYO7A
Accession:XM_047426973
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:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036056 CLINVAR
dbSNP (RS) rs606231379 CLINVAR
MedGen C5680250 CLINVAR
NCBI Gene MYO7A CLINVAR
OMIM 276903 CLINVAR