RGD:28868192 Rat Genome Database

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Variant: RGD:28868192 -  Homo sapiens

RGD ID: 28868192
RS ID: rs201341056
ClinVar ID: CV897365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEP  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 127,895,469
GRCh38 7 128,255,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.127895469A>C
NM_000230.2:c.*653A>C
NG_007450.1:g.19139A>C
NC_000007.14:g.128255416A>C
More... 		01/13/2018 3 prime utr variant uncertain significance Leptin deficiency or dysfunction
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LEP
Accession:NM_000230
Location:3UTRS;EXON

Gene Symbol:LEP
Accession:XM_005250340
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001162345 CLINVAR
dbSNP (RS) rs201341056 CLINVAR
MedGen C3554224 CLINVAR
NCBI Gene LEP CLINVAR
OMIM 164160 CLINVAR
  614962 CLINVAR