chr5:161128914:C>T Detail (hg19) (GABRA6)

Information

Genome

Assembly Position
hg19 chr5:161,128,914-161,128,914
hg38 chr5:161,701,908-161,701,908 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000811.2:c.*135C>T
Ensemble ENST00000274545.10:c.*135C>T
ENST00000523217.5:c.*135C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.327
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 137143 OMIM
HGNC 4080 HGNC
Ensembl ENSG00000145863 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23512259 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-04-05 criteria provided, single submitter childhood absence epilepsy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 epilepsy We investigated the association of single-nucleotide polymorphisms in GABA(A) re... BeFree 24061200 Detail
<0.001 epilepsy We investigated the association of single-nucleotide polymorphisms in GABA(A) re... BeFree 24061200 Detail
<0.001 epilepsy We investigated the association of single-nucleotide polymorphisms in GABA(A) re... BeFree 24061200 Detail
<0.001 idiopathic generalized epilepsy Association of GABRA6 1519 T&gt;C (rs3219151) and Synapsin II (rs37733634) gene ... BeFree 25088614 Detail
<0.001 idiopathic generalized epilepsy Association of GABRA6 1519 T&gt;C (rs3219151) and Synapsin II (rs37733634) gene ... BeFree 25088614 Detail
0.123 schizophrenia Our results suggest that rs3219151 of GABRA6 was associated significantly to dec... BeFree 23332465 Detail
0.217 schizophrenia Our results suggest that rs3219151 of GABRA6 was associated significantly to dec... BeFree 23332465 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000811.3(GABRA6):c.*135C>T AND Childhood absence epilepsy ClinVar Detail
We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subty... DisGeNET Detail
We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subty... DisGeNET Detail
We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subty... DisGeNET Detail
Association of GABRA6 1519 T&gt;C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with t... DisGeNET Detail
Association of GABRA6 1519 T&gt;C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with t... DisGeNET Detail
Our results suggest that rs3219151 of GABRA6 was associated significantly to decrease the risk of sc... DisGeNET Detail
Our results suggest that rs3219151 of GABRA6 was associated significantly to decrease the risk of sc... 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
rs3219151 dbSNP
Genome
hg19
Position
chr5:161,128,914-161,128,914
Variant Type
snv
Reference Allele
C
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))
rs3219151
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3274
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5487
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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