chr10:54531235:C>T Detail (hg19) (MBL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:54,531,235-54,531,235 |
| hg38 | chr10:52,771,475-52,771,475 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000242.2:c.161G>A | NP_000233.1:p.Gly54Asp |
| Ensemble | ENST00000674931.1:c.161G>A | ENST00000674931.1:p.Gly54Asp |
| ENST00000373968.3:c.161G>A | ENST00000373968.3:p.Gly54Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.209 |
| ToMMo:0.200 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.173 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely benign
|
2022-04-05 | criteria provided, single submitter | Mannose-binding lectin deficiency |
germline
unknown
|
Detail |
Benign
|
2020-10-28 | criteria provided, single submitter | not specified |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-23 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.073 | Lupus Erythematosus, Systemic | [The genetic contribution towards predicting early-onset disease in patients wit... | GAD | 20881011 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| <0.001 | peritonitis | We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... | BeFree | 25969530 | Detail |
| 0.001 | Community acquired pneumonia | We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... | BeFree | 25969530 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| 0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were asso... | BeFree | 25326706 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) AND Mannose-binding lectin deficiency | ClinVar | Detail |
| NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) AND not specified | ClinVar | Detail |
| NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) AND not provided | ClinVar | Detail |
| [The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... | DisGeNET | Detail |
| We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a signif... | 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
- rs1800450 dbSNP
- Genome
- hg19
- Position
- chr10:54,531,235-54,531,235
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 808
- Mean of sample read depth (HGVD)
- 10.20
- Standard deviation of sample read depth (HGVD)
- 20.57
- Number of reference allele (HGVD)
- 1279
- Number of alternative allele (HGVD)
- 337
- Allele Frequency (HGVD)
- 0.20853960396039603
- Gene Symbol (HGVD)
- MBL2
- 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))
- rs1800450
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1997
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3347
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 1496
- East Asian Heterozygous Counts (ExAC)
- 1246
- East Asian Homozygous Counts (ExAC)
- 125
- East Asian Allele Frequency (ExAC)
- 0.17314814814814813
- Chromosome Counts in All Race (ExAC)
- 121336
- Allele Counts in All Race (ExAC)
- 16850
- Heterozygous Counts in All Race (ExAC)
- 14254
- Homozygous Counts in All Race (ExAC)
- 1298
- Allele Frequency in All Race (ExAC)
- 0.1388705742730929
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