chr7:127894525:C>T Detail (hg19) (LEP)

Information

Genome

Assembly Position
hg19 chr7:127,894,525-127,894,525
hg38 chr7:128,254,472-128,254,472 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000230.2:c.213C>T NP_000221.1:p.Thr71=
Ensemble ENST00000308868.5:c.213C>T ENST00000308868.5:p.Thr71=
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
0.231 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.343 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.440 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.335 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.223 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.439 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
0.309 obesity We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... BeFree 15959859 Detail
Annotation

Annotations

DescrptionSourceLinks
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... DisGeNET Detail
We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... 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
rs200187656 dbSNP
Genome
hg19
Position
chr7:127,894,525-127,894,525
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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