RGD:14706502 Rat Genome Database

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Variant: RGD:14706502 -  Homo sapiens

RGD ID: 14706502
RS ID: rs7546838
ClinVar ID: CV657128
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTRK1  SH2D2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 156,785,771
GRCh38 1 156,815,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001161444.2:c.123+27T>C
NM_003975.4:c.123+27T>C
NM_001161443.2:c.39+27T>C
NM_001161442.2:c.69+27T>C
More... 		07/08/2021 genic upstream transcript variant|intron variant 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; none provided
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:SH2D2A
Accession:NM_001161443
Location:INTRON

Gene Symbol:SH2D2A
Accession:XM_017002762
Location:INTRON

Gene Symbol:SH2D2A
Accession:NM_003975
Location:INTRON

Gene Symbol:SH2D2A
Accession:NM_001161444
Location:INTRON

Gene Symbol:SH2D2A
Accession:XM_017002764
Location:INTRON

Gene Symbol:SH2D2A
Accession:NM_001161442
Location:INTRON

Gene Symbol:SH2D2A
Accession:XM_017002765
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_001012331
Location:INTRON

Gene Symbol:SH2D2A
Accession:XM_006711615
Location:INTRON

Gene Symbol:SH2D2A
Accession:XM_017002766
Location:INTRON

Gene Symbol:SH2D2A
Accession:XM_047433652
Location:INTRON

Gene Symbol:SH2D2A
Accession:NM_001161441
Location:INTRON

Gene Symbol:SH2D2A
Accession:XM_047433655
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000826539 CLINVAR
  RCV001537655 CLINVAR
dbSNP (RS) rs7546838 CLINVAR
MedGen C0020074 CLINVAR
  C3661900 CLINVAR
NCBI Gene NTRK1 CLINVAR
  SH2D2A CLINVAR
OMIM 191315 CLINVAR
  256800 CLINVAR
  604514 CLINVAR
SNOMED CT 62985007 CLINVAR