chr20:38310650:G>C Detail (hg38) (BPI)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr20:36,939,052-36,939,052 View the variant detail on this assembly version.
hg38	chr20:38,310,650-38,310,650

HGVS

BPI

Type	Transcript	Protein
RefSeq	NM_001725.2:c.546G>C	NP_001716.2:p.Val182=
Ensemble	ENST00000262865.9:c.546G>C	ENST00000262865.9:p.Val182=
	ENST00000642449.2:c.534G>C	ENST00000642449.2:p.Val178=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Benign
Review star
Show details

Links

BPI

Type	Database	ID	Link
Gene	MIM	109195	OMIM
	HGNC	1095	HGNC
	Ensembl	ENSG00000101425	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv408084939	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2016-03-28	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Organ dysfunction syndrome	We evaluated the role of single nucleotide polymorphisms for five genes: bacteri...	BeFree	24383711	Detail
<0.001	Organ dysfunction syndrome	We evaluated the role of single nucleotide polymorphisms for five genes: bacteri...	BeFree	24383711	Detail
<0.001	Organ dysfunction syndrome	We evaluated the role of single nucleotide polymorphisms for five genes: bacteri...	BeFree	24383711	Detail
<0.001	Organ dysfunction syndrome	We evaluated the role of single nucleotide polymorphisms for five genes: bacteri...	BeFree	24383711	Detail
<0.001	Organ dysfunction syndrome	We evaluated the role of single nucleotide polymorphisms for five genes: bacteri...	BeFree	24383711	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001725.3(BPI):c.534G>C (p.Val178=) AND not specified	ClinVar	Detail
We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i...	DisGeNET	Detail
We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i...	DisGeNET	Detail
We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i...	DisGeNET	Detail
We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i...	DisGeNET	Detail
We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i...	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: rs5743507 dbSNP
Genome: hg38
Position: chr20:38,310,650-38,310,650
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Heterozygous Counts in All Race (ExAC): 9917
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120904
Allele Counts in All Race (ExAC): 11127
Homozygous Counts in All Race (ExAC): 605
Allele Frequency in All Race (ExAC): 0.09203169456759082

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