chr11:108235839:G>A Detail (hg38) (ATM)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,106,566-108,106,566 View the variant detail on this assembly version. |
hg38 | chr11:108,235,839-108,235,839 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000051.3:c.496+5G>A | |
NM_001351834.1:c.496+5G>A | ||
Ensemble | ENST00000278616.10:c.496+5G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2004-04-30 | no assertion criteria provided | Ataxia - telangiectasia variant |
![]() |
Detail |
![]() ![]() |
2022-02-15 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2022-12-06 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2024-01-11 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
![]() ![]() |
Detail |
![]() |
2018-03-20 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
![]() |
Detail |
![]() |
2023-10-03 | criteria provided, single submitter | Familial cancer of breast |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Ataxia-Telangiectasia Variant | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.496+5G>A AND Ataxia - telangiectasia variant | ClinVar | Detail |
NM_000051.4(ATM):c.496+5G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.496+5G>A AND not provided | ClinVar | Detail |
NM_000051.4(ATM):c.496+5G>A AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.496+5G>A AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.496+5G>A AND Familial cancer of breast | 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
- rs796051858 dbSNP
- Genome
- hg38
- Position
- chr11:108,235,839-108,235,839
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser