rs761530159 Rat Genome Database

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Variant: rs761530159 -  Homo sapiens

RGD ID: 127299679
RS ID: rs761530159
ClinVar ID: CV1130473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127270564  NTRK1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 156,836,698
GRCh38 1 156,866,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_261t1:c.270-4G>A
NM_001007792.1:c.270-4G>A
NM_001012331.2:c.360-4G>A
NM_002529.4:c.360-4G>A
More... 		04/11/2023 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_001007792
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_002529
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_001012331
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001498372 CLINVAR
  RCV002456896 CLINVAR
dbSNP (RS) rs761530159 CLINVAR
MedGen C0020074 CLINVAR
  C0950123 CLINVAR
NCBI Gene NTRK1 CLINVAR
OMIM 191315 CLINVAR
  256800 CLINVAR
SNOMED CT 62985007 CLINVAR