chr9:84668501:C>A Detail (hg38) (NTRK2)

Information

Genome

Assembly Position
hg19 chr9:87,283,416-87,283,416 View the variant detail on this assembly version.
hg38 chr9:84,668,501-84,668,501

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000686259.1:c.-866C>A
ENST00000686496.1:c.-1321C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.746
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 tgv36649703 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
0.042 major depressive disorder We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
0.002 major depressive disorder We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
0.002 Unipolar Depression We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
0.022 Unipolar Depression We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... DisGeNET Detail
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... DisGeNET Detail
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... DisGeNET Detail
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... 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
rs1187323 dbSNP
Genome
hg38
Position
chr9:84,668,501-84,668,501
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs1187323
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7455
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12495
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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