chr6:32058330:C>A Detail (hg38) (TNXB)

Information

Genome

Assembly Position
hg19 chr6:32,026,107-32,026,107 View the variant detail on this assembly version.
hg38 chr6:32,058,330-32,058,330

HGVS

Type Transcript Protein
RefSeq NM_019105.6:c.7553G>T NP_061978.6:p.Gly2518Val
Ensemble ENST00000375244.7:c.7553G>T ENST00000375244.7:p.Gly2518Val
ENST00000644971.2:c.7553G>T ENST00000644971.2:p.Gly2518Val
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 600985 OMIM
HGNC 11976 HGNC
Ensembl ENSG00000168477 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
0.004 schizophrenia The TDT analysis demonstrated that of the nine SNPs, three were associated with ... BeFree 14755442 Detail
Annotation

Annotations

DescrptionSourceLinks
The TDT analysis demonstrated that of the nine SNPs, three were associated with schizophrenia, inclu... 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
rs1009382 dbSNP
Genome
hg38
Position
chr6:32,058,330-32,058,330
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser