View genomic variant #0000000038

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.66102617A>G
Published as -
GERP -8.340
Segregation -
DB-ID LEPR_000003 See all 2 reported entries
MSCV MSCV_0000038
dbSNP ID rs61781316
Frequency -
Sources ; clinVar;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00377 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

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 0000000038 -?/-? c.3417A>G p.(=) synonymous_variant - 20/20 - r.(=) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000310429; RCV000365066; RCV000030139;
Chromosome 1:66102617..66102617
Allele frequencies from ESP 0.0038
Allele frequencies from ExAC 0.00290
Allele frequencies from TGP 0.0006
ClinVar Allele ID 45129
Disease database name and identifier MedGen:C0028754, OMIM:601665, Orphanet:ORPHA71529, SNOMED CT:414916001|MedGen:C3554225, OMIM:614963, Orphanet:ORPHA179494|MedGen:CN239457
ClinVar preferred disease name Obesity|Leptin receptor deficiency|Monogenic Non-Syndromic Obesity
HGVS variant names NC 000001.10:g.66102617A>G
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely benign(1), Uncertain significance(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:84022
Gene symbol:Gene id. LEPR:3953
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 61781316
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None