RGD:28872828 Rat Genome Database

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Variant: RGD:28872828 -  Homo sapiens

RGD ID: 28872828
RS ID: rs1378129983
ClinVar ID: CV897394
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 127,897,616
GRCh38 7 128,257,563
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007450.1:g.21286G>A
NM_000230.2:c.*2800G>A
NC_000007.14:g.128257563G>A
NC_000007.13:g.127897616G>A
More... 		01/12/2018 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 RCV001164590 CLINVAR
dbSNP (RS) rs1378129983 CLINVAR
MedGen C3554224 CLINVAR
NCBI Gene LEP CLINVAR
OMIM 164160 CLINVAR
  614962 CLINVAR