rs2112545448 Rat Genome Database

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Variant: rs2112545448 -  Homo sapiens

RGD ID: 152144299
RS ID: rs2112545448
ClinVar ID: CV1576378
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIFR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 38,523,694
GRCh38 5 38,523,592
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127671.2:c.398-10C>G
NM_001364297.2:c.398-10C>G
NM_001364298.2:c.398-10C>G
NM_002310.6:c.398-10C>G
More...
12/23/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LIFR
Accession:NM_001364297
Location:INTRON

Gene Symbol:LIFR
Accession:XM_047417172
Location:INTRON

Gene Symbol:LIFR
Accession:XM_011514042
Location:INTRON

Gene Symbol:LIFR
Accession:NM_001127671
Location:INTRON

Gene Symbol:LIFR
Accession:XM_017009463
Location:INTRON

Gene Symbol:LIFR
Accession:NM_001364298
Location:INTRON

Gene Symbol:LIFR
Accession:NM_002310
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002101219 CLINVAR
dbSNP (RS) rs2112545448 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LIFR CLINVAR
OMIM 151443 CLINVAR