chr12:6442930:A>C Detail (hg19) (TNFRSF1A)

Information

Genome

Assembly Position
hg19 chr12:6,442,930-6,442,930
hg38 chr12:6,333,764-6,333,764 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001065.3:c.295T>G NP_001056.1:p.Cys99Gly
Ensemble ENST00000540022.5:c.194-248T>G
ENST00000440083.7:c.295T>G ENST00000440083.7:p.Cys99Gly
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
Show details
Links
Type Database ID Link
Gene MIM 191190 OMIM
HGNC 11916 HGNC
Ensembl ENSG00000067182 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other unknown MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided TNF receptor-associated periodic fever syndrome (TRAPS) not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.582 TNF receptor-associated periodic fever syndrome (TRAPS) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001065.4(TNFRSF1A):c.295T>G (p.Cys99Gly) AND TNF receptor-associated periodic fever syndrome (TRA... ClinVar Detail
NA 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
rs104895228 dbSNP
Genome
hg19
Position
chr12:6,442,930-6,442,930
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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