RGD:13535588 Rat Genome Database

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Variant: RGD:13535588 -  Homo sapiens

RGD ID: 13535588
RS ID: rs771397877
ClinVar ID: CV497555
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127886045  MYO15A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 18,039,019
GRCh38 17 18,135,705
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.18135705G>A
NC_000017.10:g.18039019G>A
NM_016239.4:c.4483-6G>A
NG_011634.2:g.32000G>A
More... 		08/16/2023 intron variant likely benign|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
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:XM_024450781
Location:INTRON

Gene Symbol:MYO15A
Accession:NM_016239
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024715
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 RCV000602448 CLINVAR
  RCV003736836 CLINVAR
dbSNP (RS) rs771397877 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYO15A CLINVAR
OMIM 602666 CLINVAR