Annotation Detail

Information
Associated Genes
BDNF BDNF-AS
Associated Variants
BDNF p.Val148Met (p.V148M) ( ENST00000532997.5, ENST00000395981.7, ENST00000356660.9, ENST00000314915.6, ENST00000439476.6, ENST00000530861.5, ENST00000395983.7, ENST00000395986.6, ENST00000525950.5, ENST00000533246.5, ENST00000418212.5, ENST00000525528.1, ENST00000533131.5, ENST00000395978.7, ENST00000438929.5 )
BDNF p.Val148Met (p.V148M) ( ENST00000314915.6, ENST00000356660.9, ENST00000395978.7, ENST00000395981.7, ENST00000395983.7, ENST00000395986.6, ENST00000418212.5, ENST00000438929.5, ENST00000439476.6, ENST00000525528.1, ENST00000525950.5, ENST00000530861.5, ENST00000532997.5, ENST00000533131.5, ENST00000533246.5 )
Associated Disease
Memory impairment, susceptibility to
Source Database
ClinVar
Description
NM_001709.5(BDNF):c.196G>A (p.Val66Met) AND Memory impairment, susceptibility to
ClinVar Allele ID
32736
ClinVar RefSeq Alternation Syntax
NR_033315.1:n.434C>T
ClinVar RefSeq Alternation Syntax
NM_001143816.2:c.196G>A
ClinVar RefSeq Alternation Syntax
NR_033314.1:n.503C>T
ClinVar RefSeq Alternation Syntax
NM_001143808.2:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_001143811.2:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_001143810.2:c.442G>A
ClinVar RefSeq Alternation Syntax
NM_001143813.2:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_170733.4:c.196G>A
ClinVar RefSeq Alternation Syntax
NR_033313.1:n.434C>T
ClinVar RefSeq Alternation Syntax
NM_001143809.2:c.283G>A
ClinVar RefSeq Alternation Syntax
NM_001709.5:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_170734.4:c.241G>A
ClinVar RefSeq Alternation Syntax
NM_001143812.2:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_001143806.1:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_001143807.2:c.196G>A
ClinVar RefSeq Alternation Syntax
NR_002832.2:n.503C>T
ClinVar RefSeq Alternation Syntax
NM_001143814.2:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_170731.5:c.220G>A
ClinVar RefSeq Alternation Syntax
NM_170735.6:c.196G>A
ClinVar RefSeq Alternation Syntax
NR_033312.1:n.434C>T
ClinVar RefSeq Alternation Syntax
NM_170732.4:c.196G>A
ClinVar RefSeq Alternation Syntax
NM_001143805.1:c.196G>A
Clinical Significance Description
risk factor
Clinical Significance Last Update
2022-12-13
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000019267
ClinVar Disease
Memory impairment, susceptibility to
Observed Origin Sample
germline
Pubmed
16344533
Pubmed
16389585
Pubmed
12140781
Pubmed
20075215
Pubmed
12888803
Pubmed
15115760
Pubmed
15337662
Pubmed
12553913
Pubmed
16152572
Pubmed
12836135
Pubmed
16172806
Pubmed
16222333
Pubmed
12161822
Drugs