RGD:11604127 Rat Genome Database

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Variant: RGD:11604127 -  Homo sapiens

RGD ID: 11604127
RS ID: rs41457646
ClinVar ID: CV304954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 127,897,021
GRCh38 7 128,256,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007450.1:g.20691G>A
NC_000007.14:g.128256968G>A
NC_000007.13:g.127897021G>A
NM_000230.3:c.*2205G>A
More... 		06/14/2016 3 prime utr variant likely benign childhood <1 / 1 000 000 Leptin deficiency or dysfunction
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LEP
Accession:XM_005250340
Location:3UTRS;EXON

Gene Symbol:LEP
Accession:NM_000230
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000306592 CLINVAR
  RCV000400996 CLINVAR
dbSNP (RS) rs41457646 CLINVAR
MedGen C3554224 CLINVAR
  CN239457 CLINVAR
NCBI Gene LEP CLINVAR
OMIM 164160 CLINVAR
  614962 CLINVAR