Genomic variant #0000000039

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.66102623C>T
Published as -
GERP 3.500
Segregation -
DB-ID LEPR_000004
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LEPR NM_002303.5 -?/-? c.3423C>T p.(=) synonymous_variant - 20/20 - r.(=) -


ClinVar @ MSeqDR

0.00010
45130
MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:414916001
Obesity
HGVS variant names NC 000001.10:g.66102623C>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. LEPR:3953
SO:0001819|synonymous variant
1
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