chr10:72152888:T>C Detail (hg38) (ASCC1)

Information

Genome

Assembly Position
hg19 chr10:73,912,646-73,912,646 View the variant detail on this assembly version.
hg38 chr10:72,152,888-72,152,888

HGVS

Type Transcript Protein
RefSeq NR_045564.1:c.727A>G
NM_001198800.2:c.626+8650A>G
NM_001198799.2:c.811A>G NP_001185728.1:p.Met271Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 614215 OMIM
HGNC 24268 HGNC
Ensembl ENSG00000138303 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.345 schizophrenia Effect of catechol O-methyltransferase val(158)met polymorphism on the p50 gatin... BeFree 17448448 Detail
0.012 schizophrenia Effect of catechol O-methyltransferase val(158)met polymorphism on the p50 gatin... BeFree 17448448 Detail
Annotation

Annotations

DescrptionSourceLinks
Effect of catechol O-methyltransferase val(158)met polymorphism on the p50 gating endophenotype in s... DisGeNET Detail
Effect of catechol O-methyltransferase val(158)met polymorphism on the p50 gating endophenotype in s... 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
rs61758724 dbSNP
Genome
hg38
Position
chr10:72,152,888-72,152,888
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser