RGD:11581441 Rat Genome Database

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Variant: RGD:11581441 -  Homo sapiens

RGD ID: 11581441
RS ID: rs763975867
ClinVar ID: CV273474
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO15A  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 18,051,884
GRCh38 17 18,148,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000017.11:g.18148570T>A
NC_000017.10:g.18051884T>A
NM_016239.4:c.6764+2T>A
NG_011634.2:g.44865T>A
More... 		10/26/2020 splice donor variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance infancy Deafness, autosomal recessive 3; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYO15A
Accession:XM_024450780
Location:INTRON

Gene Symbol:MYO15A
Accession:NM_016239
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024715
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_024450781
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024714
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_011523918
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17546645   PMID:24033266   PMID:24123792   PMID:25741868   PMID:26969326   PMID:28492532   PMID:31827275  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000369680 CLINVAR
  RCV000600824 CLINVAR
  RCV000778490 CLINVAR
dbSNP (RS) rs763975867 CLINVAR
MedGen C1838263 CLINVAR
  C3661900 CLINVAR
  C5680250 CLINVAR
NCBI Gene MYO15A CLINVAR
OMIM 600316 CLINVAR
  602666 CLINVAR