chr5:161294312:G>A Detail (hg38) (GABRB2)

Information

Genome

Assembly Position
hg19 chr5:160,721,319-160,721,319 View the variant detail on this assembly version.
hg38 chr5:161,294,312-161,294,312

HGVS

Type Transcript Protein
RefSeq NM_000813.2:c.1308C>T NP_000804.1:p.Ala436=
NM_021911.2:c.1308C>T NP_068711.1:p.Ala436=
Ensemble ENST00000274547.7:c.1308C>T ENST00000274547.7:p.Ala436=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.025
ToMMo:0.018
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.036

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600232 OMIM
HGNC 4082 HGNC
Ensembl ENSG00000145864 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23503783 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-06-29 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-02-01 criteria provided, single submitter intellectual disability 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
Annotation

Annotations

DescrptionSourceLinks
NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=) AND not specified ClinVar Detail
NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=) AND Intellectual disability 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

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
rs2229944 dbSNP
Genome
hg38
Position
chr5:161,294,312-161,294,312
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
159.44
Standard deviation of sample read depth (HGVD)
70.34
Number of reference allele (HGVD)
2358
Number of alternative allele (HGVD)
60
Allele Frequency (HGVD)
0.02481389578163772
Gene Symbol (HGVD)
GABRB2
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))
rs2229944
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0179
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
300
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
314
East Asian Heterozygous Counts (ExAC)
294
East Asian Homozygous Counts (ExAC)
10
East Asian Allele Frequency (ExAC)
0.0362837993991218
Chromosome Counts in All Race (ExAC)
121360
Allele Counts in All Race (ExAC)
12853
Heterozygous Counts in All Race (ExAC)
10925
Homozygous Counts in All Race (ExAC)
964
Allele Frequency in All Race (ExAC)
0.10590804218852999
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