RGD:15100000 Rat Genome Database

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Variant: RGD:15100000 -  Homo sapiens

RGD ID: 15100000
RS ID: rs372743293
ClinVar ID: CV787019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTRK1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 156,844,690
GRCh38 1 156,874,898
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001007792.1:c.1144-8C>G
NG_007493.1:g.64149C>G
NC_000001.11:g.156874898C>G
NC_000001.10:g.156844690C>G
More... 		11/24/2020 intron variant likely benign 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_001012331
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_002529
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_001007792
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001446227 CLINVAR
dbSNP (RS) rs372743293 CLINVAR
MedGen C0020074 CLINVAR
NCBI Gene NTRK1 CLINVAR
OMIM 191315 CLINVAR
  256800 CLINVAR
SNOMED CT 62985007 CLINVAR