chr20:10306436:G>T Detail (hg38) (SNAP25)

Information

Genome

Assembly Position
hg19 chr20:10,287,084-10,287,084 View the variant detail on this assembly version.
hg38 chr20:10,306,436-10,306,436

HGVS

Type Transcript Protein
RefSeq NM_001322903.1:c.*239G>T
NM_001322904.1:c.*239G>T
NM_001322905.1:c.*239G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.726
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600322 OMIM
HGNC 11132 HGNC
Ensembl ENSG00000132639 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63096471 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter congenital myasthenic syndrome 18 germline Detail
Benign 2021-03-08 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.025 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
0.006 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
0.264 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
0.098 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
0.029 attention deficit hyperactivity disorder SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-H... BeFree 23872233 Detail
0.001 attention deficit hyperactivity disorder Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs37465... BeFree 23872233 Detail
0.047 attention deficit hyperactivity disorder [Further, significant heterogeneity was observed for the associations between AD... GAD 19506906 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_130811.4(SNAP25):c.*239G>T AND Congenital myasthenic syndrome 18 ClinVar Detail
NM_130811.4(SNAP25):c.*239G>T AND not provided ClinVar Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail
SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-HT2A (rs6311) and NET... DisGeNET Detail
Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs3746544) is a risk factor... DisGeNET Detail
[Further, significant heterogeneity was observed for the associations between ADHD and DAT1, DRD4, D... 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
rs3746544 dbSNP
Genome
hg38
Position
chr20:10,306,436-10,306,436
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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))
rs3746544
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7264
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12174
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser