RGD:9689767 Rat Genome Database

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Variant: RGD:9689767 -  Homo sapiens

RGD ID: 9689767
RS ID: rs6925845
ClinVar ID: CV174012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 76,572,453
GRCh38 6 75,862,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.75862736A>G
NC_000006.11:g.76572453A>G
NM_004999.3:c.1674+13A>G
NM_001368865.1:c.1674+13A>G
More...
11/05/2021 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Autosomal dominant nonsyndromic deafness 22; Deafness, autosomal dominant 22; Deafness, autosomal dominant nonsyndromic sensorineural 22; Deafness, autosomal recessive 37; DFNA 22; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYO6
Accession:NM_004999
Location:INTRON

Gene Symbol:MYO6
Accession:XM_005248721
Location:INTRON

Gene Symbol:MYO6
Accession:XM_005248722
Location:INTRON

Gene Symbol:MYO6
Accession:XM_005248724
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001300899
Location:INTRON

Gene Symbol:MYO6
Accession:XM_017010899
Location:INTRON

Gene Symbol:MYO6
Accession:XM_024446447
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368865
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368866
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368137
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368136
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368138
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368139
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368140
Location:INTRON

Gene Symbol:MYO6
Accession:XM_047418836
Location:INTRON

Gene Symbol:MYO6
Accession:NR_160538
Location:INTRON;NON-CODING

Gene Symbol:MYO6
Accession:NR_160539
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155377 CLINVAR
  RCV000316172 CLINVAR
  RCV000373102 CLINVAR
  RCV001576153 CLINVAR
dbSNP (RS) rs6925845 CLINVAR
MedGen C1843028 CLINVAR
  C2931767 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYO6 CLINVAR
OMIM 600970 CLINVAR
  606346 CLINVAR
  607821 CLINVAR