View genomic variant #0000000037

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.66102080C>T
Published as -
GERP 2.940
Segregation -
DB-ID LEPR_000002
MSCV MSCV_0000037
dbSNP ID rs193922650
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LEPR 00003129 NM_002303.5 0000000037 ./. c.2880C>T p.(=) synonymous_variant - 20/20 - r.(=) -
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ClinVar @ MSeqDR

RCVaccession RCV000030138;
Chromosome 1:66102080..66102080
ClinVar Allele ID 45128
Disease database name and identifier MedGen:C0028754, OMIM:601665, Orphanet:ORPHA71529, SNOMED CT:414916001
ClinVar preferred disease name Obesity
HGVS variant names NC 000001.10:g.66102080C>G
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. LEPR:3953
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 193922650
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs19392265016610208066102080C/Gclinically associatedOBESITY