chr3:10286769:T>A Detail (hg38) (GHRL, GHRLOS)

Information

Genome

Assembly Position
hg19 chr3:10,328,453-10,328,453 View the variant detail on this assembly version.
hg38 chr3:10,286,769-10,286,769

HGVS

Type Transcript Protein
RefSeq NM_001134941.2:c.266A>T NP_001128413.1:p.Gln89Leu
NM_001302821.1:c.266A>T NP_001289750.1:p.Gln89Leu
NM_016362.4:c.266A>T NP_057446.1:p.Gln89Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.029
ToMMo:0.022
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.006

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605353 OMIM
HGNC 18129 HGNC
Ensembl ENSG00000157017 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11446064 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2002-06-01 no assertion criteria provided obesity germline Detail
Benign 2021-06-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Malignant neoplasm of breast This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
0.001 breast carcinoma This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
0.006 Malignant neoplasm of breast This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
<0.001 breast carcinoma This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
0.003 Eating Disorders No association of the neuropeptide Y (Leu7Pro) and ghrelin gene (Arg51Gln, Leu72... BeFree 21047193 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) AND Obesity ClinVar Detail
NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) AND not provided ClinVar Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
No association of the neuropeptide Y (Leu7Pro) and ghrelin gene (Arg51Gln, Leu72Met, Gln90Leu) singl... 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
rs4684677 dbSNP
Genome
hg38
Position
chr3:10,286,769-10,286,769
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
59.09
Standard deviation of sample read depth (HGVD)
24.86
Number of reference allele (HGVD)
2339
Number of alternative allele (HGVD)
69
Allele Frequency (HGVD)
0.028654485049833887
Gene Symbol (HGVD)
GHRL
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))
rs4684677
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0224
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
376
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
54
East Asian Heterozygous Counts (ExAC)
54
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0062514470942347765
Chromosome Counts in All Race (ExAC)
120840
Allele Counts in All Race (ExAC)
10949
Heterozygous Counts in All Race (ExAC)
8431
Homozygous Counts in All Race (ExAC)
1259
Allele Frequency in All Race (ExAC)
0.0906074147633234
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