RGD:12848991 Rat Genome Database

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Variant: RGD:12848991 -  Homo sapiens

RGD ID: 12848991
RS ID: rs1057523846
ClinVar ID: CV368761
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 76,554,613
GRCh38 6 75,844,896
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.75844896G>A
NC_000006.11:g.76554613G>A
NM_004999.4:c.817-1G>A
NM_004999.3:c.817-1G>A
More... 		09/20/2023 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:MYO6
Accession:XM_005248721
Location:INTRON

Gene Symbol:MYO6
Accession:XM_005248724
Location:INTRON

Gene Symbol:MYO6
Accession:XM_017010899
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001300899
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368866
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368136
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368140
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368865
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368139
Location:INTRON

Gene Symbol:MYO6
Accession:NM_004999
Location:INTRON

Gene Symbol:MYO6
Accession:XM_024446447
Location:INTRON

Gene Symbol:MYO6
Accession:XM_005248722
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368137
Location:INTRON

Gene Symbol:MYO6
Accession:NM_001368138
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:12687499   PMID:16199547   PMID:18348273   PMID:23767834   PMID:25999546   PMID:28492532   PMID:30582396  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000422184 CLINVAR
dbSNP (RS) rs1057523846 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MYO6 CLINVAR
OMIM 600970 CLINVAR