chr2:218890244:G>A Detail (hg38) (WNT10A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:219,754,966-219,754,966 View the variant detail on this assembly version. |
hg38 | chr2:218,890,244-218,890,244 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_025216.2:c.637G>A | NP_079492.2:p.Gly213Ser |
Ensemble | ENST00000258411.8:c.637G>A | ENST00000258411.8:p.Gly213Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.015 |
ToMMo:0.014 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.024 |
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 |
---|---|---|---|---|---|
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2018-01-13 | criteria provided, single submitter | Tooth agenesis, selective, 4 |
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Detail |
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2018-01-13 | criteria provided, single submitter | SchC6pf-Schulz-Passarge syndrome |
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Detail |
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2018-01-13 | criteria provided, single submitter | Odonto-onycho-dermal dysplasia |
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Detail |
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2024-02-01 | criteria provided, conflicting interpretations | Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia |
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Detail |
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2024-02-01 | criteria provided, conflicting interpretations | Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia |
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Detail |
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2014-09-15 | no assertion criteria provided |
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Detail | |
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2022-12-20 | criteria provided, single submitter | not provided |
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Detail |
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criteria provided, single submitter | Tooth agenesis, selective, 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | TOOTH AGENESIS, SELECTIVE, 4 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND Tooth agenesis, selective, 4 | ClinVar | Detail |
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND SchC6pf-Schulz-Passarge syndrome | ClinVar | Detail |
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND Odonto-onycho-dermal dysplasia | ClinVar | Detail |
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND Tooth agenesis | ClinVar | Detail |
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND not provided | ClinVar | Detail |
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND Tooth agenesis, selective, 2 | 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
- rs147680216 dbSNP
- Genome
- hg38
- Position
- chr2:218,890,244-218,890,244
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1194
- Mean of sample read depth (HGVD)
- 43.05
- Standard deviation of sample read depth (HGVD)
- 20.67
- Number of reference allele (HGVD)
- 2353
- Number of alternative allele (HGVD)
- 35
- Allele Frequency (HGVD)
- 0.014656616415410386
- Gene Symbol (HGVD)
- WNT10A
- 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))
- rs147680216
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0137
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 229
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8468
- East Asian Allele Counts (ExAC)
- 201
- East Asian Heterozygous Counts (ExAC)
- 195
- East Asian Homozygous Counts (ExAC)
- 3
- East Asian Allele Frequency (ExAC)
- 0.023736419461502126
- Chromosome Counts in All Race (ExAC)
- 118674
- Allele Counts in All Race (ExAC)
- 208
- Heterozygous Counts in All Race (ExAC)
- 200
- Homozygous Counts in All Race (ExAC)
- 4
- Allele Frequency in All Race (ExAC)
- 0.0017527006758009337
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