chr7:127896536:A>G Detail (hg19) (LEP)

Information

Genome

Assembly Position
hg19 chr7:127,896,536-127,896,536
hg38 chr7:128,256,483-128,256,483 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000230.2:c.*1720A>G
Ensemble ENST00000308868.5:c.*1720A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.949
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv30926916 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter Obesity due to congenital leptin deficiency germline Detail
Benign 2016-06-14 criteria provided, single submitter Monogenic Non-Syndromic Obesity germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000230.3(LEP):c.*1720A>G AND Obesity due to congenital leptin deficiency ClinVar Detail
NM_000230.3(LEP):c.*1720A>G AND Monogenic Non-Syndromic Obesity ClinVar 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
rs10954174 dbSNP
Genome
hg19
Position
chr7:127,896,536-127,896,536
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs10954174
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.949
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15903
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser