RGD:11646426 Rat Genome Database

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Variant: RGD:11646426 -  Homo sapiens

RGD ID: 11646426
RS ID: rs200767650
ClinVar ID: CV289890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRXN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 50,692,571
GRCh38 2 50,465,433
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011878.1:g.572104C>T
NC_000002.12:g.50465433G>A
NC_000002.11:g.50692571G>A
NM_001135659.1:c.3484+9C>T
More... 		11/16/2020 intron variant conflicting interpretations of pathogenicity|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NRXN1
Accession:NM_004801
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001320156
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330083
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330086
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001320157
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330096
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_138735
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330093
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330088
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330085
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330079
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330089
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001135659
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330094
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330095
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330082
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330077
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330092
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330084
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330090
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330087
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330078
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330097
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330091
Location:INTRON

Gene Symbol:NRXN1
Accession:NM_001330081
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000270547 CLINVAR
dbSNP (RS) rs200767650 CLINVAR
MedGen C3280479 CLINVAR
NCBI Gene NRXN1 CLINVAR
OMIM 600565 CLINVAR
  614325 CLINVAR