chr5:160758337:C>G Detail (hg19) (GABRB2)

Information

Genome

Assembly Position
hg19 chr5:160,758,337-160,758,337
hg38 chr5:161,331,330-161,331,330 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000813.2:c.833-203G>C
NM_021911.2:c.833-203G>C
Ensemble ENST00000274547.7:c.833-203G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.153
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 600232 OMIM
HGNC 4082 HGNC
Ensembl ENSG00000145864 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23504618 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.152 schizophrenia Five SNPs in GABRB2, namely B2I7G1584T, rs1816071, rs194072, rs252944 and rs1872... BeFree 14699426 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001371727.1(GABRB2):c.833-203G>C AND not provided ClinVar Detail
Five SNPs in GABRB2, namely B2I7G1584T, rs1816071, rs194072, rs252944 and rs187269, were found to be... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs252944 dbSNP
Genome
hg19
Position
chr5:160,758,337-160,758,337
Variant Type
snv
Reference Allele
C
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))
rs252944
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1529
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2562
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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