chr2:219755011:T>A Detail (hg19) (WNT10A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:219,755,011-219,755,011 |
hg38 | chr2:218,890,289-218,890,289 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_025216.2:c.682T>A | NP_079492.2:p.Phe228Ile |
Ensemble | ENST00000258411.8:c.682T>A | ENST00000258411.8:p.Phe228Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
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 | 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 |
---|---|---|---|---|---|
![]() |
2023-04-12 | criteria provided, conflicting interpretations | Odonto-onycho-dermal dysplasia |
![]() ![]() |
Detail |
![]() |
2023-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
![]() ![]() ![]() |
Detail |
![]() ![]() |
2022-06-13 | criteria provided, multiple submitters, no conflicts | Tooth agenesis, selective, 4 |
![]() ![]() |
Detail |
![]() |
2024-01-31 | criteria provided, single submitter | Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia |
![]() |
Detail |
![]() |
2024-01-31 | criteria provided, single submitter | Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia |
![]() |
Detail |
![]() |
2020-10-14 | criteria provided, single submitter | Inborn genetic diseases |
![]() |
Detail |
![]() |
2023-09-12 | criteria provided, multiple submitters, no conflicts | hypohidrotic ectodermal dysplasia |
![]() ![]() |
Detail |
![]() |
2014-09-15 | no assertion criteria provided |
![]() |
Detail | |
![]() |
2023-03-22 | criteria provided, single submitter | Tooth agenesis, selective, 4,SchC6pf-Schulz-Passarge syndrome,Odonto-onycho-dermal dysplasia |
![]() ![]() ![]() |
Detail |
![]() |
2023-03-22 | criteria provided, single submitter | Tooth agenesis, selective, 4,SchC6pf-Schulz-Passarge syndrome,Odonto-onycho-dermal dysplasia |
![]() ![]() ![]() |
Detail |
![]() |
2023-03-22 | criteria provided, single submitter | Tooth agenesis, selective, 4,SchC6pf-Schulz-Passarge syndrome,Odonto-onycho-dermal dysplasia |
![]() ![]() ![]() |
Detail |
![]() |
2023-07-01 | criteria provided, single submitter | ectodermal dysplasia |
![]() |
Detail |
![]() |
2021-08-27 | criteria provided, single submitter | SchC6pf-Schulz-Passarge syndrome,Tooth agenesis, selective, 4 |
![]() |
Detail |
![]() |
2021-08-27 | criteria provided, single submitter | SchC6pf-Schulz-Passarge syndrome,Tooth agenesis, selective, 4 |
![]() |
Detail |
![]() |
2017-01-17 | criteria provided, single submitter |
![]() |
Detail | |
![]() |
2024-01-11 | criteria provided, single submitter | WNT10A-related disorder |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Odontoonychodermal dysplasia | NA | CLINVAR | Detail | |
0.240 | TOOTH AGENESIS, SELECTIVE, 4 (disorder) | NA | CLINVAR | Detail | |
0.360 | Odontoonychodermal dysplasia | In this study, we show that (1) WNT10A mutations cause not only OODD but also ot... | UNIPROT | 19559398 | Detail |
0.240 | TOOTH AGENESIS, SELECTIVE, 4 (disorder) | WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasi... | UNIPROT | 19559398 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Odonto-onycho-dermal dysplasia | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND not provided | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Tooth agenesis, selective, 4 | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Inborn genetic diseases | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Hypohidrotic ectodermal dysplasia | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Tooth agenesis | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Ectodermal dysplasia | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Oligodontia | ClinVar | Detail |
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND WNT10A-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In this study, we show that (1) WNT10A mutations cause not only OODD but also other forms of ectoder... | DisGeNET | Detail |
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased m... | 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
- rs121908120 dbSNP
- Genome
- hg19
- Position
- chr2:219,755,011-219,755,011
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8362
- 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)
- 117764
- Allele Counts in All Race (ExAC)
- 1499
- Heterozygous Counts in All Race (ExAC)
- 1471
- Homozygous Counts in All Race (ExAC)
- 14
- Allele Frequency in All Race (ExAC)
- 0.012728847525559594
Genome browser