View genomic variant #0000000037

Chromosome 1
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) 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
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LEPR NM_002303.5 ./. c.2880C>T p.(=) synonymous_variant - 20/20 - r.(=) -


ClinVar @ MSeqDR

45128
MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001
Obesity
HGVS variant names NC 000001.10:g.66102080C>G
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. LEPR:3953
SO:0001583|missense variant
1
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