Information on FANCG
Basic details
Alt. symbols: XRCC9 | FAG
Approved name: FA complementation group G
Alt. names: Fanconi anemia complementation group G | DNA repair protein XRCC9, X-ray repair, complementing defective, in Chinese hamster, 9, X-ray repair complementing defective repair in Chinese hamster cells 9
Location: 9p13.3: 35073835 - 35080004 (-)
Gene type: protein_coding, 22 transcripts.
Scores: LoFtool: 0.873000 | pLI: 0.00000001 | LOEUF: 1.091
Normal function
Dysfunction and disease
Fanconi anemia, complementation group G [MIM:614082] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCG |
Fanconi anemia, complementation group G | AR |
614082 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of FANCG
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000378643.8 | 1 | CCDS6574 | Select | protein_coding | 14 | Yes | 2556 | NM_004629 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in FANCG
| ID | Year | Title | Journal | PMID | Variants |
|---|