chr11:48144715:G>T Detail (hg38) (PTPRJ)

Information

Genome

Assembly Position
hg19 chr11:48,166,267-48,166,267 View the variant detail on this assembly version.
hg38 chr11:48,144,715-48,144,715

HGVS

Type Transcript Protein
RefSeq NM_002843.3:c.2616G>T NP_002834.3:p.Glu872Asp
Ensemble ENST00000418331.7:c.2616G>T ENST00000418331.7:p.Glu872Asp
ENST00000698881.1:c.2958G>T ENST00000698881.1:p.Glu986Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600925 OMIM
HGNC 9673 HGNC
Ensembl ENSG00000149177 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42477725 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 Thyroid Neoplasm We also looked for the Gln276Pro, Arg326Gln and Asp872Glu polymorphisms in exons... BeFree 15378013 Detail
Annotation

Annotations

DescrptionSourceLinks
We also looked for the Gln276Pro, Arg326Gln and Asp872Glu polymorphisms in exons 5, 6 and 13 of PTPR... 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
chr11:48,144,715-48,144,715
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1200
Mean of sample read depth (HGVD)
81.55
Standard deviation of sample read depth (HGVD)
36.62
Number of reference allele (HGVD)
1203
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
0.0016597510373443983
Gene Symbol (HGVD)
PTPRJ
Genome browser