NC_000017.11:g.(?_7669599)_(8382320_?)del AND Li-Fraumeni syndrome Detail (hg38) (ALOX12B, ALOX15B, CHD3, EFNB3, GUCY2D, PER1, PFAS, RPL26, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, KCNAB3, AURKB, ARHGEF15, KDM6B, RANGRF, BORCS6, WRAP53, TRAPPC1, ALOXE3, CTC1, TMEM107, NAA38, HES7, TMEM88, CNTROB, CYB5D1, KRBA2, DNAH2, ODF4, RNF227, LINC00324, SLC25A35, SCARNA21, SNORD118, LOC100128288, TRS-CGA1-1, TRW-CCA3-3, TRW-CCA1-1, TRP-CGG1-3, TRS-AGA2-6, TRT-AGT1-1, TRG-TCC3-1, TRT-AGT1-2, TRS-GCT4-3, TRD-GTC2-11, TRI-AAT5-5, TRI-AAT4-1, TRT-AGT5-1, MIR4314, MIR4521, MIR6883, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:7,572,917-8,285,638 View the variant detail on this assembly version. |
| hg38 | chr17:7,669,599-8,382,320 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | |||
| NCBI | |||
| Gene Cards | |||
| 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 |
|---|---|---|---|---|---|
|
Pathogenic
|
2020-01-22 | criteria provided, single submitter | Li-Fraumeni syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000017.11:g.(?_7669599)_(8382320_?)del AND Li-Fraumeni syndrome | ClinVar | 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
- -
- Genome
- hg38
- Position
- chr17:7,669,599-8,382,320
- Variant Type
- cnv
Genome browser