chr3:38138714:G>T Detail (hg38) (MYD88)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:38,180,205-38,180,205 View the variant detail on this assembly version.
hg38	chr3:38,138,714-38,138,714

HGVS

MYD88

Type	Transcript	Protein
RefSeq	NM_001172567.1:c.14G>T	NP_001166038.1:p.Gly5Val
Ensemble	ENST00000417037.8:c.14G>T	ENST00000417037.8:p.Gly5Val
	ENST00000421516.3:c.14G>T	ENST00000421516.3:p.Gly5Val
	ENST00000650112.2:c.14G>T	ENST00000650112.2:p.Gly5Val
	ENST00000650905.2:c.14G>T	ENST00000650905.2:p.Gly5Val
	ENST00000651800.2:c.14G>T	ENST00000651800.2:p.Gly5Val
	ENST00000652213.1:c.14G>T	ENST00000652213.1:p.Gly5Val

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
Review star	[No Data.]
Show details

Links

MYD88

Type	Database	ID	Link
Gene	MIM	602170	OMIM
	HGNC	7562	HGNC
	Ensembl	ENSG00000172936	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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
0.003	T-cell large granular lymphocyte leukemia	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut...	BeFree	24689848	Detail
0.121	Angioimmunoblastic Lymphadenopathy	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut...	BeFree	24689848	Detail
0.132	hairy cell leukemia	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut...	BeFree	24689848	Detail
<0.001	T-cell large granular lymphocyte leukemia	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut...	BeFree	24689848	Detail
0.121	peripheral T-cell lymphoma	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut...	BeFree	24689848	Detail
0.129	Waldenstrom Macroglobulinemia	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut...	BeFree	24689848	Detail

Annotation

Annotations

Descrption	Source	Links
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström...	DisGeNET	Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström...	DisGeNET	Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström...	DisGeNET	Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström...	DisGeNET	Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström...	DisGeNET	Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström...	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: -
Genome: hg38
Position: chr3:38,138,714-38,138,714
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8170
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): 105888
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.443940767603506E-6

Genome browser