RGD:8610822 Rat Genome Database

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Variant: RGD:8610822 -  Homo sapiens

RGD ID: 8610822
RS ID: rs201107982
ClinVar ID: CV57120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMIE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 46,747,288
GRCh38 3 46,705,798
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.9466G>A
NC_000003.12:g.46705798G>A
NC_000003.11:g.46747288G>A
NP_671729.2:p.Thr34=
More... 		11/20/2020 5 prime utr variant|synonymous variant likely benign|uncertain significance AllHighlyPenetrant; 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_001370525
Location:5UTRS;EXON

Gene Symbol:TMIE
Accession:NM_001370524
Location:5UTRS;EXON

Gene Symbol:TMIE
Accession:NM_147196
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSIIITLCCVFNC
RVPRTRKEIEARYLQRKAAKMYTDKLETVPPLNELTEVPGEDKKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000041228 CLINVAR
  RCV000902784 CLINVAR
  RCV001145476 CLINVAR
  RCV003944952 CLINVAR
dbSNP (RS) rs201107982 CLINVAR
MedGen C1832992 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TMIE CLINVAR
OMIM 600971 CLINVAR
  607237 CLINVAR