chr1:247423338:A>G Detail (hg38) (NLRP3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:247,586,640-247,586,640 View the variant detail on this assembly version. |
| hg38 | chr1:247,423,338-247,423,338 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001127462.2:c.386A>G | NP_001120934.1:p.Lys129Arg |
| NM_001243133.1:c.386A>G | NP_001230062.1:p.Lys129Arg | |
| NM_004895.4:c.386A>G | NP_004886.3:p.Lys129Arg |
Summary
MGeND
| Clinical significance |
Uncertain significance
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
familial cold autoinflammatory syndrome |
germline
|
MGS000073
(TMGS000185) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2013-02-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2024-01-15 | criteria provided, single submitter | Cryopyrin associated periodic syndrome |
germline
|
Detail |
|
Uncertain significance
|
2022-01-06 | criteria provided, single submitter | Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,familial cold autoinflammatory syndrome 1,Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness |
unknown
|
Detail |
|
Uncertain significance
|
2022-01-06 | criteria provided, single submitter | Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,familial cold autoinflammatory syndrome 1,Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness |
unknown
|
Detail |
|
Uncertain significance
|
2022-01-06 | criteria provided, single submitter | Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,familial cold autoinflammatory syndrome 1,Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness |
unknown
|
Detail |
|
Uncertain significance
|
2022-01-06 | criteria provided, single submitter | Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,familial cold autoinflammatory syndrome 1,Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness |
unknown
|
Detail |
|
Uncertain significance
|
2022-01-06 | criteria provided, single submitter | Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,familial cold autoinflammatory syndrome 1,Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND not provided | ClinVar | Detail |
| NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND Cryopyrin associated periodic syndrome | ClinVar | Detail |
| NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND multiple conditions | ClinVar | Detail |
| NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND multiple conditions | ClinVar | Detail |
| NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND multiple conditions | ClinVar | Detail |
| NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND multiple conditions | ClinVar | Detail |
| NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND multiple conditions | 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
- rs188623199 dbSNP
- Genome
- hg38
- Position
- chr1:247,423,338-247,423,338
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1202
- Mean of sample read depth (HGVD)
- 40.25
- Standard deviation of sample read depth (HGVD)
- 22.04
- Number of reference allele (HGVD)
- 2399
- Number of alternative allele (HGVD)
- 5
- Allele Frequency (HGVD)
- 0.0020798668885191347
- Gene Symbol (HGVD)
- NLRP3
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs188623199
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0011
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 18
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 10
- East Asian Heterozygous Counts (ExAC)
- 10
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.001155802126675913
- Chromosome Counts in All Race (ExAC)
- 121410
- Allele Counts in All Race (ExAC)
- 10
- Heterozygous Counts in All Race (ExAC)
- 10
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236553825879252E-5
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