RGD:11592697 Rat Genome Database

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Variant: RGD:11592697 -  Homo sapiens

RGD ID: 11592697
RS ID: rs139803503
ClinVar ID: CV301081
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO6  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 76,626,514
GRCh38 6 75,916,797
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.75916797A>C
NC_000006.11:g.76626514A>C
NM_001300899.2:c.*1785A>C
NM_001368136.1:c.*1785A>C
More... 		01/13/2018 3 prime utr variant benign|likely benign|uncertain significance Autosomal dominant nonsyndromic deafness 22; Deafness, autosomal dominant 22; Deafness, autosomal dominant nonsyndromic sensorineural 22; Deafness, autosomal recessive 37; DFNA 22
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYO6
Accession:NM_001368866
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:XM_005248722
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:NM_001368136
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:XM_005248724
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:NM_001368865
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:XM_024446447
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:NM_001368137
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:NM_001300899
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:XM_005248721
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:NM_001368138
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:NM_004999
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:XM_017010899
Location:3UTRS;EXON

Gene Symbol:MYO6
Accession:XM_047418836
Location:3UTRS;EXON

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

Gene Symbol:MYO6
Accession:NM_001368140
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368139
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000341188 CLINVAR
  RCV000401637 CLINVAR
dbSNP (RS) rs139803503 CLINVAR
MedGen C1843028 CLINVAR
  C2931767 CLINVAR
NCBI Gene MYO6 CLINVAR
OMIM 600970 CLINVAR
  606346 CLINVAR
  607821 CLINVAR