View genomic variant #0000000038

Chromosome 1
Allele Unknown
Affects function (reported) Probably does not affect function
Affects function (concluded) 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
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LEPR NM_002303.5 -?/-? c.3417A>G p.(=) synonymous_variant - 20/20 - r.(=) -


ClinVar @ MSeqDR

0.0038
0.00290
0.0006
45129
MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001|MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN239457
Obesity|Leptin receptor deficiency|Monogenic Non-Syndromic Obesity
HGVS variant names NC 000001.10:g.66102617A>G
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:84022
Gene symbol:Gene id. LEPR:3953
SO:0001819|synonymous variant
1
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