chr6:81752132:C>A Detail (hg38) (TENT5A)

Information

Genome

Assembly Position
hg19 chr6:82,461,849-82,461,849 View the variant detail on this assembly version.
hg38 chr6:81,752,132-81,752,132

HGVS

Type Transcript Protein
RefSeq NM_017633.2:c.10G>T NP_060103.2:p.Gly4Cys
Ensemble ENST00000320172.11:c.10G>T ENST00000320172.11:p.Gly4Cys
ENST00000369754.7:c.67G>T ENST00000369754.7:p.Gly23Cys
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 611357 OMIM
HGNC 18345 HGNC
Ensembl ENSG00000112773 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
<0.001 tuberculosis Association of variable number of tandem repeats in the coding region of the FAM... BeFree 24625963 Detail
<0.001 tuberculosis Association of variable number of tandem repeats in the coding region of the FAM... BeFree 24625963 Detail
Annotation

Annotations

DescrptionSourceLinks
Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs1... DisGeNET Detail
Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs1... 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
rs11040 dbSNP
Genome
hg38
Position
chr6:81,752,132-81,752,132
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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