View genomic variant #0000000039

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.66102623C>T
Published as -
GERP 3.500
Segregation -
DB-ID LEPR_000004 See all 2 reported entries
MSCV MSCV_0000039
dbSNP ID rs193922651
Frequency -
Sources ; clinVar;
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 0000000039 -?/-? c.3423C>T p.(=) synonymous_variant - 20/20 - r.(=) -
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ClinVar @ MSeqDR

RCVaccession RCV000030140;
Chromosome 1:66102623..66102623
Allele frequencies from ExAC 0.00010
ClinVar Allele ID 45130
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.66102623C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. LEPR:3953
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 193922651
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