RGD:11545936 Rat Genome Database

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Variant: RGD:11545936 -  Homo sapiens

RGD ID: 11545936
RS ID: rs17838546
ClinVar ID: CV250397
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 175,613,021
GRCh38 2 174,748,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008172.1:g.21180C>T
NC_000002.12:g.174748293G>A
NC_000002.11:g.175613021G>A
NM_001039523.3:c.1318-38C>T
More... 		intron variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CHRNA1
Accession:XM_017003257
Location:INTRON

Gene Symbol:CHRNA1
Accession:XM_017003256
Location:INTRON

Gene Symbol:CHRNA1
Accession:NM_000079
Location:INTRON

Gene Symbol:CHRNA1
Accession:NM_001039523
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245810 CLINVAR
dbSNP (RS) rs17838546 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CHRNA1 CLINVAR
OMIM 100690 CLINVAR