RGD:13534559 Rat Genome Database

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Variant: RGD:13534559 -  Homo sapiens

RGD ID: 13534559
RS ID: rs368335921
ClinVar ID: CV497704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO15A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 18,066,545
GRCh38 17 18,163,231
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.18163231C>T
NC_000017.10:g.18066545C>T
NM_016239.4:c.9613-13C>T
NM_016239.3:c.9613-13C>T
More... 		06/02/2016 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:MYO15A
Accession:XM_011523918
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024715
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_024450780
Location:INTRON

Gene Symbol:MYO15A
Accession:NM_016239
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_024450781
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024714
Location:INTRON

Gene Symbol:MYO15A
Accession:XR_934039
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000607361 CLINVAR
  RCV002532728 CLINVAR
dbSNP (RS) rs368335921 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYO15A CLINVAR
OMIM 602666 CLINVAR