chr12:121185082:C>A Detail (hg38) (P2RX7)

Information

Genome

Assembly Position
hg19 chr12:121,622,885-121,622,885 View the variant detail on this assembly version.
hg38 chr12:121,185,082-121,185,082

HGVS

Type Transcript Protein
RefSeq NM_002562.5:c.*280C>A
NR_033951.1:c.*280C>A
Ensemble ENST00000328963.10:c.*280C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.301
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602566 OMIM
HGNC 8537 HGNC
Ensembl ENSG00000089041 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47506939 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Mood Disorders In the current study the genetic effects of rs2230912 (Gln460Arg) and rs1653625 ... BeFree 23602648 Detail
Annotation

Annotations

DescrptionSourceLinks
In the current study the genetic effects of rs2230912 (Gln460Arg) and rs1653625 (located in the 3' u... 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
rs1653625 dbSNP
Genome
hg38
Position
chr12:121,185,082-121,185,082
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs1653625
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.301
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5041
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16750
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