chr14:79478819:A>G Detail (hg38) (NRXN3)

Information

Genome

Assembly Position
hg19 chr14:79,945,162-79,945,162 View the variant detail on this assembly version.
hg38 chr14:79,478,819-79,478,819

HGVS

Type Transcript Protein
RefSeq NM_001272020.1:c.429+11417A>G
NM_138970.4:c.429+11417A>G
NM_001105250.2:c.429+11417A>G
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 600567 OMIM
HGNC 8010 HGNC
Ensembl ENSG00000021645 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv282054772 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 Obesity, Abdominal Two meta-analyses of genome-wide association studies (GWAS) have suggested that ... BeFree 21674055 Detail
Annotation

Annotations

DescrptionSourceLinks
Two meta-analyses of genome-wide association studies (GWAS) have suggested that four variants: rs260... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10146997 dbSNP
Genome
hg38
Position
chr14:79,478,819-79,478,819
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser