chr7:127894621:C>G Detail (hg19) (LEP)

Information

Genome

Assembly Position
hg19 chr7:127,894,621-127,894,621
hg38 chr7:128,254,568-128,254,568 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000230.2:c.309C>G NP_000221.1:p.Asn103Lys
Ensemble ENST00000308868.5:c.309C>G ENST00000308868.5:p.Asn103Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 164160 OMIM
HGNC 6553 HGNC
Ensembl ENSG00000174697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 obesity Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutatio... BeFree 26186301 Detail
0.440 obesity A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyp... BeFree 19427251 Detail
0.122 Hyperphagia We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe... BeFree 26186301 Detail
Annotation

Annotations

DescrptionSourceLinks
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene... DisGeNET Detail
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient. DisGeNET Detail
We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28954113 dbSNP
Genome
hg19
Position
chr7:127,894,621-127,894,621
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser