chr5:161495002:A> Detail (hg19) (GABRG2)

Information

Genome

Assembly Position
hg19 chr5:161,495,002-161,495,002
hg38 chr5:162,067,996-162,067,996 

HGVS

Type Transcript Protein
RefSeq NM_198903.2:c.-4delA
NM_198904.2:c.-4delA
NM_000816.3:c.-4delA
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.157
ToMMo:0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.391

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 137164 OMIM
HGNC 4087 HGNC
Ensembl ENSG00000113327 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23520239 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2016-06-14 criteria provided, single submitter Severe myoclonic epilepsy in infancy germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter generalized epilepsy with febrile seizures plus germline Detail
Likely benign 2020-02-21 criteria provided, single submitter not provided germline Detail
Likely benign 2018-04-05 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_198904.4(GABRG2):c.-4del AND Severe myoclonic epilepsy in infancy ClinVar Detail
NM_198904.4(GABRG2):c.-4del AND Generalized epilepsy with febrile seizures plus ClinVar Detail
NM_198904.4(GABRG2):c.-4del AND not provided ClinVar Detail
NM_198904.4(GABRG2):c.-4del AND Inborn genetic diseases ClinVar 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
rs771282908 dbSNP
Genome
hg19
Position
chr5:161,495,002-161,495,002
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
813
Mean of sample read depth (HGVD)
18.66
Standard deviation of sample read depth (HGVD)
16.23
Number of reference allele (HGVD)
1295
Number of alternative allele (HGVD)
242
Allele Frequency (HGVD)
0.15744957709824334
Gene Symbol (HGVD)
GABRG2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0011
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
19
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
5872
East Asian Allele Counts (ExAC)
2295
East Asian Heterozygous Counts (ExAC)
2295
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.39083787465940056
Chromosome Counts in All Race (ExAC)
85348
Allele Counts in All Race (ExAC)
32713
Heterozygous Counts in All Race (ExAC)
32708
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.3832895908515724
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