chr4:55592186:>GCCTAT Detail (hg19) (KIT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:55,592,186-55,592,186 |
hg38 | chr4:54,726,020-54,726,020 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000222.2:c.1509_1510insGCCTAT | NP_000213.1:p.Ala502_Tyr503dup |
NM_001093772.1:c.1512_1513insGCCTAT | NP_001087241.1:p.Ala503_Tyr504dup | |
Ensemble | ENST00000288135.6:c.1509_1510insGCCTAT | ENST00000288135.6:p.Ala502_Tyr503dup |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 5 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
duodenum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
ileum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
duodenum |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
![]() |
small intestine, unspecified |
![]() |
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2023-02-15 | criteria provided, single submitter | not provided |
![]() |
Detail |
CIViC
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In an in vitro study of imatinib sensitivity, KIT Y503_F504insAY was cloned into a plasmid by site-d... | CIViC Evidence | Detail |
NM_000222.3(KIT):c.1504_1509dup (p.Tyr503_Phe504insAlaTyr) AND not provided | 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
- hg19
- Position
- chr4:55,592,186-55,592,186
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- GCCTAT
- Variant (CIViC) (CIViC Variant)
- Y503_F504insAY
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/946
- Variant (CIViC) (CIViC Variant)
- S501_A502INSAY
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1206
Genome browser