chr12:6442989:G>T Detail (hg19) (TNFRSF1A)

Information

Genome

Assembly Position
hg19 chr12:6,442,989-6,442,989
hg38 chr12:6,333,823-6,333,823 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001065.3:c.236C>A NP_001056.1:p.Thr79Lys
Ensemble ENST00000540022.5:c.193+268C>A
ENST00000162749.7:c.236C>A ENST00000162749.7:p.Thr79Lys
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
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.236C>A (p.Thr79Lys) 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
rs104895219 dbSNP
Genome
hg19
Position
chr12:6,442,989-6,442,989
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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