chr7:128254572:C>T Detail (hg38) (LEP)

Information

Genome

Assembly Position
hg19 chr7:127,894,625-127,894,625 View the variant detail on this assembly version.
hg38 chr7:128,254,572-128,254,572

HGVS

Type Transcript Protein
RefSeq NM_000230.2:c.313C>T NP_000221.1:p.Arg105Trp
Ensemble ENST00000308868.5:c.313C>T ENST00000308868.5:p.Arg105Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 tgv30926813 TogoVar
COSMIC COSM6700488 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-03-30 no assertion criteria provided Obesity due to congenital leptin deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.368 LEPTIN DEFICIENCY OR DYSFUNCTION NA CLINVAR Detail
0.368 LEPTIN DEFICIENCY OR DYSFUNCTION A leptin missense mutation associated with hypogonadism and morbid obesity. UNIPROT 9500540 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000230.3(LEP):c.313C>T (p.Arg105Trp) AND Obesity due to congenital leptin deficiency ClinVar Detail
NA DisGeNET Detail
A leptin missense mutation associated with hypogonadism and morbid 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
rs104894023 dbSNP
Genome
hg38
Position
chr7:128,254,572-128,254,572
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs104894023
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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