RGD:150468041 Rat Genome Database

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Variant: RGD:150468041 -  Homo sapiens

RGD ID: 150468041
RS ID: rs1533272
ClinVar ID: CV1269332
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APPL1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 57,294,295
GRCh38 3 57,260,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012096.3:c.1695+114T>C
NG_047003.1:g.37531T>C
NC_000003.12:g.57260267T>C
NC_000003.11:g.57294295T>C
 08/17/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:APPL1
Accession:NM_012096
Location:INTRON

Gene Symbol:APPL1
Accession:XM_011533583
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001694740 CLINVAR
dbSNP (RS) rs1533272 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene APPL1 CLINVAR
OMIM 604299 CLINVAR