chr17:19552477:C>T Detail (hg19) (ALDH3A2)

Information

Genome

Assembly Position
hg19 chr17:19,552,477-19,552,477
hg38 chr17:19,649,164-19,649,164 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000382.2:c.153+40C>T
NM_001031806.1:c.153+40C>T
Ensemble ENST00000579855.5:c.153+40C>T
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 609523 OMIM
HGNC 403 HGNC
Ensembl ENSG00000072210 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
0.002 Ichthyosis bullosa of Siemens The results suggest that IL-10 rs1800870 confers susceptibility to the risk of I... BeFree 24409078 Detail
Annotation

Annotations

DescrptionSourceLinks
The results suggest that IL-10 rs1800870 confers susceptibility to the risk of IBS in Caucasian ethn... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800870 dbSNP
Genome
hg19
Position
chr17:19,552,477-19,552,477
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser