chr5:161897892:A>G Detail (hg38) (GABRA1)

Information

Genome

Assembly Position
hg19 chr5:161,324,898-161,324,898 View the variant detail on this assembly version.
hg38 chr5:161,897,892-161,897,892

HGVS

Type Transcript Protein
RefSeq NM_001127644.1:c.*470A>G
NM_001127643.1:c.*470A>G
NM_001127645.1:c.*470A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.503
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 137160 OMIM
HGNC 4075 HGNC
Ensembl ENSG00000022355 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23516969 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter Epilepsy, idiopathic generalized, susceptibility to, 13 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.200 hepatic encephalopathy Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (... BeFree 24482035 Detail
0.200 hepatic encephalopathy Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (... BeFree 24482035 Detail
<0.001 Hypoalbuminemia Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (... BeFree 24482035 Detail
<0.001 Hypoalbuminemia Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (... BeFree 24482035 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001127644.2(GABRA1):c.*470A>G AND Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... DisGeNET Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... DisGeNET Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... DisGeNET Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... 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
rs2290732 dbSNP
Genome
hg38
Position
chr5:161,897,892-161,897,892
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2290732
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.503
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8430
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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