chr11:27743556:G>T Detail (hg19) (BDNF)

Information

Genome

Assembly Position
hg19 chr11:27,743,556-27,743,556
hg38 chr11:27,722,009-27,722,009 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_170731.4:c.-595C>A
Ensemble ENST00000314915.6:c.-595C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.022 Unipolar Depression We examined the influence of C-281A (rs28383487) and val66met (rs6265) functiona... BeFree 21103954 Detail
0.042 major depressive disorder We examined the influence of C-281A (rs28383487) and val66met (rs6265) functiona... BeFree 21103954 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined the influence of C-281A (rs28383487) and val66met (rs6265) functional polymorphisms in B... DisGeNET Detail
We examined the influence of C-281A (rs28383487) and val66met (rs6265) functional polymorphisms in B... 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
rs28383487 dbSNP
Genome
hg19
Position
chr11:27,743,556-27,743,556
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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