RGD:11584424 Rat Genome Database

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Variant: RGD:11584424 -  Homo sapiens

RGD ID: 11584424
RS ID: rs56002857
ClinVar ID: CV294823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMIE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 46,751,229
GRCh38 3 46,709,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011628.1:g.13407C>T
NC_000003.12:g.46709739C>T
NC_000003.11:g.46751229C>T
NM_001370524.1:c.*51C>T
More... 		06/16/2018 3 prime utr variant benign|likely benign Deafness, autosomal recessive 6; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMIE
Accession:NM_001370524
Location:3UTRS;EXON

Gene Symbol:TMIE
Accession:NM_001370525
Location:3UTRS;EXON

Gene Symbol:TMIE
Accession:NM_147196
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000273608 CLINVAR
  RCV001683377 CLINVAR
dbSNP (RS) rs56002857 CLINVAR
MedGen C1832992 CLINVAR
  C3661900 CLINVAR
NCBI Gene TMIE CLINVAR
OMIM 600971 CLINVAR
  607237 CLINVAR