RGD:151816541 Rat Genome Database

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Variant: RGD:151816541 -  Homo sapiens

RGD ID: 151816541
RS ID: rs2134247837
ClinVar ID: CV1441025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,250,732
GRCh38 11 67,483,261
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302960.2:c.99+4C>T
NM_003977.4:c.99+4C>T
LRG_460:g.5228C>T
NG_008969.1:g.5228C>T
More...
11/25/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AIP
Accession:NM_003977
Location:INTRON

Gene Symbol:AIP
Accession:NM_001302960
Location:INTRON

Gene Symbol:AIP
Accession:NM_001302959
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001933730 CLINVAR
dbSNP (RS) rs2134247837 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AIP CLINVAR
OMIM 605555 CLINVAR