RGD:15152176 Rat Genome Database

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Variant: RGD:15152176 -  Homo sapiens

RGD ID: 15152176
RS ID: rs371043285
ClinVar ID: CV690071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TECPR2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 102,874,821
GRCh38 14 102,408,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172631.3:c.349-4A>T
NM_014844.5:c.349-4A>T
NG_042851.1:g.50573A>T
NC_000014.9:g.102408484A>T
More... 		01/15/2019 intron variant likely benign NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY; Spastic paraplegia 49, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TECPR2
Accession:NM_014844
Location:INTRON

Gene Symbol:TECPR2
Accession:NM_001172631
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000867389 CLINVAR
dbSNP (RS) rs371043285 CLINVAR
MedGen C3542549 CLINVAR
NCBI Gene TECPR2 CLINVAR
OMIM 615000 CLINVAR
  615031 CLINVAR