chr9:85025721:A>G Detail (hg38) (NTRK2)

Information

Genome

Assembly Position
hg19 chr9:87,640,636-87,640,636 View the variant detail on this assembly version.
hg38 chr9:85,025,721-85,025,721

HGVS

Type Transcript Protein
RefSeq NM_001018064.2:c.*4284A>G
Ensemble ENST00000277120.8:c.*4284A>G
ENST00000323115.11:c.*4284A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.177
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 600456 OMIM
HGNC 8032 HGNC
Ensembl ENSG00000148053 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv36657147 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
0.080 post-traumatic stress disorder Using q-value analysis for multiplicity correction, we found significant interac... BeFree 17570738 Detail
0.002 major depressive disorder To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs27... BeFree 23137999 Detail
0.002 Unipolar Depression To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs27... BeFree 23137999 Detail
<0.001 post-traumatic stress disorder Using q-value analysis for multiplicity correction, we found significant interac... BeFree 17570738 Detail
Annotation

Annotations

DescrptionSourceLinks
Using q-value analysis for multiplicity correction, we found significant interactions between lithiu... DisGeNET Detail
To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs2769605 and rs1565445)... DisGeNET Detail
To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs2769605 and rs1565445)... DisGeNET Detail
Using q-value analysis for multiplicity correction, we found significant interactions between lithiu... 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
rs1387923 dbSNP
Genome
hg38
Position
chr9:85,025,721-85,025,721
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs1387923
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.177
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2967
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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