chr11:108170479:G>C Detail (hg19) (ATM)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,170,479-108,170,479 |
hg38 | chr11:108,299,752-108,299,752 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001351834.1:c.5044G>C | NP_001338763.1:p.Asp1682His |
NM_000051.3:c.5044G>C | NP_000042.3:p.Asp1682His | |
Ensemble | ENST00000452508.7:c.5044G>C | ENST00000452508.7:p.Asp1682His |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
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 |
---|---|---|---|---|---|---|---|---|---|
![]() |
bronchus or lung, unspecified |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.126 | T-cell prolymphocytic leukemia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) AND T-cell prolymphocytic leukemia | ClinVar | Detail |
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) AND Hereditary cancer-predisposing syndrome | 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
- rs121434217 dbSNP
- Genome
- hg19
- Position
- chr11:108,170,479-108,170,479
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- D1682H
- Transcript 1 (CIViC Variant)
- ENST00000278616.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1168
Genome browser