chr2:218882368:C>A Detail (hg38) (WNT10A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:219,747,090-219,747,090 View the variant detail on this assembly version. |
hg38 | chr2:218,882,368-218,882,368 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_025216.2:c.321C>A | NP_079492.2:p.Cys107Ter |
Ensemble | ENST00000258411.8:c.321C>A | ENST00000258411.8:p.Cys107Ter |
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 |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-03-12 | criteria provided, single submitter | Odonto-onycho-dermal dysplasia |
![]() |
Detail |
![]() |
2020-09-16 | no assertion criteria provided | SchC6pf-Schulz-Passarge syndrome |
![]() |
Detail |
![]() |
2024-01-02 | criteria provided, multiple submitters, no conflicts | Tooth agenesis, selective, 4 |
![]() ![]() |
Detail |
![]() |
2014-09-07 | criteria provided, single submitter | Inborn genetic diseases |
![]() |
Detail |
![]() |
2024-01-01 | criteria provided, multiple submitters, no conflicts | not provided |
![]() ![]() |
Detail |
![]() |
2018-10-31 | criteria provided, single submitter | SchC6pf-Schulz-Passarge syndrome,Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia |
![]() ![]() |
Detail |
![]() |
2018-10-31 | criteria provided, single submitter | SchC6pf-Schulz-Passarge syndrome,Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia |
![]() ![]() |
Detail |
![]() |
2018-10-31 | criteria provided, single submitter | SchC6pf-Schulz-Passarge syndrome,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 |
![]() |
2024-01-31 | criteria provided, single submitter | Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia |
![]() |
Detail |
![]() |
2024-03-22 | criteria provided, multiple submitters, no conflicts | WNT10A-related disorder |
![]() |
Detail |
![]() |
no assertion provided | ectodermal dysplasia |
![]() |
Detail | |
![]() |
2023-03-30 | criteria provided, single submitter | not specified |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Odontoonychodermal dysplasia | NA | CLINVAR | Detail | |
0.362 | SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) | NA | CLINVAR | Detail | |
0.240 | TOOTH AGENESIS, SELECTIVE, 4 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND Odonto-onycho-dermal dysplasia | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND SchC6pf-Schulz-Passarge syndrome | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND Tooth agenesis, selective, 4 | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND Inborn genetic diseases | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND not provided | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND multiple conditions | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND WNT10A-related disorder | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND Ectodermal dysplasia | ClinVar | Detail |
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND not specified | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | 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
- rs121908119 dbSNP
- Genome
- hg38
- Position
- chr2:218,882,368-218,882,368
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 121352
- Allele Counts in All Race (ExAC)
- 71
- Heterozygous Counts in All Race (ExAC)
- 71
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.850748236535039E-4
Genome browser