RGD:13529403 Rat Genome Database

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Variant: RGD:13529403 -  Homo sapiens

RGD ID: 13529403
RS ID: rs375470385
ClinVar ID: CV496361
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMIE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 46,747,402
GRCh38 3 46,705,912
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_147196.2:c.211+5G>A
NG_011628.1:g.9580G>A
NM_147196.3:c.211+5G>A
NM_001370525.1:c.52+5G>A
More... 		03/27/2020 intron variant likely pathogenic|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:TMIE
Accession:NM_001370524
Location:INTRON

Gene Symbol:TMIE
Accession:NM_147196
Location:INTRON

Gene Symbol:TMIE
Accession:NM_001370525
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000605722 CLINVAR
  RCV001565176 CLINVAR
dbSNP (RS) rs375470385 CLINVAR
MedGen CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene TMIE CLINVAR
OMIM 607237 CLINVAR