TRAF7 Chromosome 16
TNF receptor associated factor 7
Upload your DNA to see your personal genotypes for variants in TRAF7.
What This Gene Does
Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]
Gene Info
Gene Group
"Ring finger proteins|WD repeat domain containing|TNF receptor associated factors|Zinc fingers TRAF-type"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000131653
Associated Conditions (8)
Cardiac
facial
and digital anomalies with developmental delay
TRAF7-related disorder
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Inborn genetic diseases
TRAF7-related syndrome
See cases
Key Variants
RS1567252663
Conflicting classifications of pathogenicity
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS201641425
Conflicting classifications of pathogenicity
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS2141298527
Conflicting classifications of pathogenicity
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS2141299157
Conflicting classifications of pathogenicity
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome, Cardiac, facial
Health Risk
RS765386143
Conflicting classifications of pathogenicity
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS2093126233
Likely pathogenic
Health Risk
RS2141298490
Likely pathogenic
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS2545007312
Likely pathogenic
Health Risk
RS2545012659
Likely pathogenic
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS1567252467
Pathogenic
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS1567252659
Pathogenic
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
RS1567254067
Pathogenic
Cardiac, facial, and digital anomalies with developmental delay
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567252663 | Health Risk | Conflicting classifications of pathogenicity | Cardiac, facial, and digital anomalies with developmental delay |
| RS201641425 | Health Risk | Conflicting classifications of pathogenicity | Cardiac, facial, and digital anomalies with developmental delay |
| RS2141298527 | Health Risk | Conflicting classifications of pathogenicity | Cardiac, facial, and digital anomalies with developmental delay |
| RS2141299157 | Health Risk | Conflicting classifications of pathogenicity | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome, Cardiac, facial |
| RS765386143 | Health Risk | Conflicting classifications of pathogenicity | Cardiac, facial, and digital anomalies with developmental delay |
| RS2093126233 | Health Risk | Likely pathogenic | — |
| RS2141298490 | Health Risk | Likely pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS2545007312 | Health Risk | Likely pathogenic | — |
| RS2545012659 | Health Risk | Likely pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS1567252467 | Health Risk | Pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS1567252659 | Health Risk | Pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS1567254067 | Health Risk | Pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS2141291233 | Health Risk | Pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS2141297268 | Health Risk | Pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS1331463984 | Health Risk | Pathogenic/Likely pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS2093132159 | Health Risk | Pathogenic/Likely pathogenic | TRAF7-related disorder, Cardiac, facial |
| RS2093135960 | Health Risk | Pathogenic/Likely pathogenic | Cardiac, facial, and digital anomalies with developmental delay |
| RS2141298772 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |