RGD:152037444 Rat Genome Database

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Variant: RGD:152037444 -  Homo sapiens

RGD ID: 152037444
RS ID: rs1419917128
ClinVar ID: CV1596228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 175,624,200
GRCh38 2 174,759,472
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000079.4:c.189+16T>A
NC_000002.11:g.175624200A>T
NC_000002.12:g.174759472A>T
NM_001039523.3:c.189+16T>A
More... 		03/25/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA1
Accession:NM_000079
Location:INTRON

Gene Symbol:CHRNA1
Accession:NM_001039523
Location:INTRON

Gene Symbol:CHRNA1
Accession:XM_017003256
Location:INTRON

Gene Symbol:CHRNA1
Accession:XM_017003257
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002125576 CLINVAR
dbSNP (RS) rs1419917128 CLINVAR
MedGen C1854678 CLINVAR
NCBI Gene CHRNA1 CLINVAR
OMIM 100690 CLINVAR
  253290 CLINVAR
SNOMED CT 60192008 CLINVAR