chr3:10287125:T>C Detail (hg38) (GHRL, GHRLOS, LOC121725129)

Information

Genome

Assembly Position
hg19 chr3:10,328,809-10,328,809 View the variant detail on this assembly version.
hg38 chr3:10,287,125-10,287,125

HGVS

Type Transcript Protein
RefSeq NM_001134941.2:c.223-313A>G
NM_001302821.1:c.223-313A>G
NM_016362.4:c.223-313A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.333
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 605353 OMIM
HGNC 18129 HGNC
Ensembl ENSG00000157017 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11446091 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 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
Annotation

Annotations

DescrptionSourceLinks
NM_016362.5(GHRL):c.226-313A>G 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2075356 dbSNP
Genome
hg38
Position
chr3:10,287,125-10,287,125
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2075356
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3331
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5582
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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