chr8:6870594:T>C Detail (hg38) (DEFB1)

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Information

Genome

Assembly	Position
hg19	chr8:6,728,116-6,728,116 View the variant detail on this assembly version.
hg38	chr8:6,870,594-6,870,594

Type	Transcript	Protein
RefSeq	NM_005218.3:c.*87A>G
Ensemble	ENST00000297439.4:c.*87A>G

Summary

Links

Type	Database	ID	Link
Gene	MIM	602056	OMIM
	HGNC	2766	HGNC
	Ensembl	ENSG00000164825	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv31984113	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	leprosy	A study was done on the association of three single nucleotide polymorphisms (SN...	BeFree	19460328	Detail

Annotation

Descrption	Source	Links
A study was done on the association of three single nucleotide polymorphisms (SNPs) in the beta-defe...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1800971 dbSNP
Genome: hg38
Position: chr8:6,870,594-6,870,594
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)): rs1800971
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0439
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 736
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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