chr11:27700188:G>A Detail (hg38) (BDNF)

Information

Genome

Assembly Position
hg19 chr11:27,721,735-27,721,735 View the variant detail on this assembly version.
hg38 chr11:27,700,188-27,700,188

HGVS

Type Transcript Protein
RefSeq NM_170731.4:c.3+21224C>T
NM_001709.4:c.-46C>T
NM_001143806.1:c.-22+20241C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.036
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 113505 OMIM
HGNC 1033 HGNC
Ensembl ENSG00000176697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42010991 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2004-06-15 no assertion criteria provided Variant of unknown significance germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Mental Depression Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene... BeFree 24047966 Detail
0.248 depressive disorder Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene... BeFree 24047966 Detail
<0.001 depressive disorder Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene... BeFree 24047966 Detail
0.120 Mental Depression Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene... BeFree 24047966 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001709.5(BDNF):c.-46C>T AND Variant of unknown significance ClinVar Detail
Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene (rs56164415) and re... DisGeNET Detail
Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene (rs56164415) and re... DisGeNET Detail
Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene (rs56164415) and re... DisGeNET Detail
Therefore, we examined whether a single-nucleotide polymorphism in the BDNF gene (rs56164415) and re... 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
rs56164415 dbSNP
Genome
hg38
Position
chr11:27,700,188-27,700,188
Variant Type
snv
Reference Allele
G
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))
rs56164415
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0363
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
608
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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