RGD:11091381 Rat Genome Database

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Variant: RGD:11091381 -  Homo sapiens

RGD ID: 11091381
RS ID: rs192483691
ClinVar ID: CV230707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYO15A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 18,029,770
GRCh38 17 18,126,456
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.18126456C>T
NC_000017.10:g.18029770C>T
NP_057323.3:p.Pro1289Leu
NM_016239.3:c.3866C>T
More... 		02/02/2018 missense variant uncertain significance AllHighlyPenetrant; 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:XM_011523918
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_024450781
Location:INTRON

Gene Symbol:MYO15A
Accession:NM_016239
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024714
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 RCV000217232 CLINVAR
  RCV001128474 CLINVAR
  RCV002517573 CLINVAR
dbSNP (RS) rs192483691 CLINVAR
MedGen C1838263 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYO15A CLINVAR
OMIM 600316 CLINVAR
  602666 CLINVAR