chr11:108181012:A>G Detail (hg19) (ATM, C11orf65)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:108,181,012-108,181,012 |
hg38 | chr11:108,310,285-108,310,285 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001351834.1:c.5888A>G | NP_001338763.1:p.Asp1963Gly |
NM_000051.3:c.5888A>G | NP_000042.3:p.Asp1963Gly | |
Ensemble | ENST00000452508.7:c.5888A>G | ENST00000452508.7:p.Asp1963Gly |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001330368.1:c.641-1214T>C | |
Ensemble | ENST00000525729.5:c.641-1214T>C |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2018/01/13 | breast, unspecified |
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MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
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2021/03/19 | control |
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MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-07-28 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-10-06 | criteria provided, single submitter | Ataxia-telangiectasia syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) AND Ataxia-telangiectasia 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
- -
- dbSNP
- rs1555110484 dbSNP
- Genome
- hg19
- Position
- chr11:108,181,012-108,181,012
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser