RGD:13535517 Rat Genome Database

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Variant: RGD:13535517 -  Homo sapiens

RGD ID: 13535517
RS ID: rs138918519
ClinVar ID: CV505332
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TECPR2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 102,963,298
GRCh38 14 102,496,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042851.1:g.139050G>C
NC_000014.9:g.102496961G>C
NC_000014.8:g.102963298G>C
NM_014844.3:c.3790-18G>C
More... 		10/11/2017 intron variant benign AllHighlyPenetrant; 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_001172631
Location:INTRON

Gene Symbol:TECPR2
Accession:NM_014844
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000607834 CLINVAR
  RCV002528755 CLINVAR
dbSNP (RS) rs138918519 CLINVAR
MedGen C3542549 CLINVAR
  CN169374 CLINVAR
NCBI Gene TECPR2 CLINVAR
OMIM 615000 CLINVAR
  615031 CLINVAR