chr6:117694118:T>G Detail (hg38) (NUS1)

Information

Genome

Assembly Position
hg19 chr6:118,015,281-118,015,281 View the variant detail on this assembly version.
hg38 chr6:117,694,118-117,694,118

HGVS

Type Transcript Protein
RefSeq NM_138459.3:c.629T>G NP_612468.1:p.Leu210Ter
Ensemble ENST00000368494.4:c.629T>G ENST00000368494.4:p.Leu210Ter
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 610463 OMIM
HGNC 21042 HGNC
Ensembl ENSG00000153989 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 Autoimmune Diseases Given the role of CD247 in the response of the T cells, its entailment in autoim... BeFree 23861880 Detail
Annotation

Annotations

DescrptionSourceLinks
Given the role of CD247 in the response of the T cells, its entailment in autoimmune diseases and in... 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
rs1052237 dbSNP
Genome
hg38
Position
chr6:117,694,118-117,694,118
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser