RGD:15156036 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:15156036 -  Homo sapiens

RGD ID: 15156036
RS ID: rs201791183
ClinVar ID: CV779330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMPH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 38,500,873
GRCh38 7 38,461,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_139316.3:c.1017+10T>C
NM_001635.4:c.1017+10T>C
NM_001635.3:c.1017+10T>C
NC_000007.14:g.38461273A>G
More...
11/20/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AMPH
Accession:NM_139316
Location:INTRON

Gene Symbol:AMPH
Accession:NM_001635
Location:INTRON

Gene Symbol:AMPH
Accession:XM_006715690
Location:INTRON

Gene Symbol:AMPH
Accession:XM_006715689
Location:INTRON

Gene Symbol:AMPH
Accession:XM_006715691
Location:INTRON

Gene Symbol:AMPH
Accession:XM_011515271
Location:INTRON

Gene Symbol:AMPH
Accession:XM_017011996
Location:INTRON

Gene Symbol:AMPH
Accession:XM_017011995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000969034 CLINVAR
dbSNP (RS) rs201791183 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AMPH CLINVAR
OMIM 600418 CLINVAR