chr20:43254222:G>A Detail (hg19) (ADA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:43,254,222-43,254,222 |
hg38 | chr20:44,625,581-44,625,581 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000022.3:c.466C>T | NP_000013.2:p.Arg156Cys |
NM_001322050.1:c.466C>T | NP_001308979.1:p.Arg156Cys | |
NM_001322051.1:c.466C>T | NP_001308980.1:p.Arg156Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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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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other |
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MGS000073
(TMGS000167) |
Kenjiro Kosaki |
Keio University IRUD |
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other |
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MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-01-11 | criteria provided, multiple submitters, no conflicts | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
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Detail |
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2018-08-02 | criteria provided, single submitter | Severe combined immunodeficiency disease |
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Detail |
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2021-05-19 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.324 | SCID Due to ADA Deficiency, Early-Onset | NA | CLINVAR | Detail | |
0.324 | SCID Due to ADA Deficiency, Early-Onset | Identification of two new missense mutations (R156C and S291L) in two ADA- SCID ... | UNIPROT | 1284479 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) AND Severe combined immunodeficiency, autosomal recessive, T... | ClinVar | Detail |
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) AND Severe combined immunodeficiency disease | ClinVar | Detail |
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for... | 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
- rs121908735 dbSNP
- Genome
- hg19
- Position
- chr20:43,254,222-43,254,222
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 1930
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 29856
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.0048231511254019E-4
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