chr16:50744742:C>T Detail (hg19) (NOD2)

Information

Genome

Assembly Position
hg19 chr16:50,744,742-50,744,742
hg38 chr16:50,710,831-50,710,831 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001293557.1:c.920C>T NP_001280486.1:p.Thr307Met
NM_022162.2:c.920C>T NP_071445.1:p.Thr307Met
Ensemble ENST00000647318.2:c.839C>T ENST00000647318.2:p.Thr280Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605956 OMIM
HGNC 5331 HGNC
Ensembl ENSG00000167207 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
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-11 criteria provided, single submitter Regional enteritis,Blau syndrome germline Detail
Likely benign 2024-01-11 criteria provided, single submitter Regional enteritis,Blau syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 Crohn Disease Our aim was to evaluate the frequency of CX3CR1 V249I and T280M polymorphisms an... BeFree 18617779 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001370466.1(NOD2):c.839C>T (p.Thr280Met) AND multiple conditions ClinVar Detail
NM_001370466.1(NOD2):c.839C>T (p.Thr280Met) AND multiple conditions ClinVar Detail
Our aim was to evaluate the frequency of CX3CR1 V249I and T280M polymorphisms and NOD2/CARD15 mutati... 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
rs191901394 dbSNP
Genome
hg19
Position
chr16:50,744,742-50,744,742
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120744
Allele Counts in All Race (ExAC)
13
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0766580534022394E-4
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