chr18:26856350:A>G Detail (hg38) (AQP4)

Information

Genome

Assembly Position
hg19 chr18:24,436,314-24,436,314 View the variant detail on this assembly version.
hg38 chr18:26,856,350-26,856,350

HGVS

Type Transcript Protein
RefSeq NM_001317384.1:c.833T>C NP_001304313.1:p.Met278Thr
NM_001650.5:c.833T>C NP_001641.1:p.Met278Thr
NM_004028.4:c.767T>C NP_004019.1:p.Met256Thr
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 600308 OMIM
HGNC 637 HGNC
Ensembl ENSG00000171885 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
0.097 brain edema We genotyped three single-nucleotide polymorphisms in the aquaporin-4 water chan... BeFree 24727946 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped three single-nucleotide polymorphisms in the aquaporin-4 water channel-encoding gene (A... 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
rs3906956 dbSNP
Genome
hg38
Position
chr18:26,856,350-26,856,350
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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