RGD:11586177 Rat Genome Database

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Variant: RGD:11586177 -  Homo sapiens

RGD ID: 11586177
RS ID: rs4683315
ClinVar ID: CV294825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMIE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 46,752,153
GRCh38 3 46,710,663
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.14331G>A
NC_000003.12:g.46710663G>A
NC_000003.11:g.46752153G>A
NM_147196.2:c.*975G>A
More...
01/12/2018 3 prime utr variant benign|likely benign Deafness, autosomal recessive 6; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMIE
Accession:NM_147196
Location:3UTRS;EXON

Gene Symbol:TMIE
Accession:NM_001370524
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000285724 CLINVAR
dbSNP (RS) rs4683315 CLINVAR
MedGen C1832992 CLINVAR
NCBI Gene TMIE CLINVAR
OMIM 600971 CLINVAR
  607237 CLINVAR