RGD:13538340 Rat Genome Database

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Variant: RGD:13538340 -  Homo sapiens

RGD ID: 13538340
RS ID: rs368701214
ClinVar ID: CV496737
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMIE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 46,750,776
GRCh38 3 46,709,286
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.12954C>T
NC_000003.12:g.46709286C>T
NC_000003.11:g.46750776C>T
NM_001370524.1:c.202+11C>T
More... 		02/07/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMIE
Accession:NM_001370525
Location:INTRON

Gene Symbol:TMIE
Accession:NM_147196
Location:INTRON

Gene Symbol:TMIE
Accession:NM_001370524
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000611686 CLINVAR
dbSNP (RS) rs368701214 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMIE CLINVAR
OMIM 607237 CLINVAR