chr3:38180205:G>T Detail (hg19) (MYD88)

Information

Genome

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

HGVS

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
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
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

DescrptionSourceLinks
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
hg19
Position
chr3:38,180,205-38,180,205
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
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