RGD:13473596 Rat Genome Database

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Variant: RGD:13473596 -  Homo sapiens

RGD ID: 13473596
RS ID: rs1452844753
ClinVar ID: CV447340
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTRK1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 156,849,155
GRCh38 1 156,879,363
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_261:g.68614G>T
NC_000001.11:g.156879363G>T
LRG_261t2:c.2028+1G>T
NM_001007792.1:c.1938+1G>T
More... 		07/17/2017 splice donor variant likely pathogenic Familial dysautonomia, type 2; FAMILIAL DYSAUTONOMIA, TYPE II; Hereditary sensory and autonomic neuropathy 4; Hereditary Sensory and Autonomic Neuropathy Type IV; HSAN 4; HSAN Type IV; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NTRK1
Accession:NM_002529
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_001012331
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_001007792
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10982191   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000539540 CLINVAR
dbSNP (RS) rs1452844753 CLINVAR
MedGen C0020074 CLINVAR
NCBI Gene NTRK1 CLINVAR
OMIM 191315 CLINVAR
  256800 CLINVAR
SNOMED CT 62985007 CLINVAR