RGD:9691155 Rat Genome Database

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Variant: RGD:9691155 -  Homo sapiens

RGD ID: 9691155
RS ID: rs533500962
ClinVar ID: CV175793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO15A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 18,029,782
GRCh38 17 18,126,468
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.18126468G>T
NC_000017.10:g.18029782G>T
NM_016239.4:c.3866+12G>T
NG_011634.2:g.22763G>T
More... 		11/18/2014 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:MYO15A
Accession:XM_024450781
Location:INTRON

Gene Symbol:MYO15A
Accession:NM_016239
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024715
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_011523918
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_024450780
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 RCV000156863 CLINVAR
  RCV003764984 CLINVAR
dbSNP (RS) rs533500962 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYO15A CLINVAR
OMIM 602666 CLINVAR