chr2:219754712:G>A Detail (hg19) (WNT10A)

Information

Genome

Assembly Position
hg19 chr2:219,754,712-219,754,712
hg38 chr2:218,889,990-218,889,990 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_025216.2:c.383G>A NP_079492.2:p.Arg128Gln
Ensemble ENST00000258411.8:c.383G>A ENST00000258411.8:p.Arg128Gln
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606268 OMIM
HGNC 13829 HGNC
Ensembl ENSG00000135925 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2019-02-20 criteria provided, single submitter Odonto-onycho-dermal dysplasia germline unknown Detail
Pathogenic 2012-05-01 no assertion criteria provided Tooth agenesis, selective, 4 germline Detail
Likely pathogenic 2022-08-23 criteria provided, single submitter not provided germline not provided Detail
Pathogenic 2024-01-08 criteria provided, single submitter Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia germline Detail
Pathogenic 2024-01-08 criteria provided, single submitter Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia germline 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

DescrptionSourceLinks
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) AND Odonto-onycho-dermal dysplasia ClinVar Detail
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) AND Tooth agenesis, selective, 4 ClinVar Detail
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) AND not provided ClinVar Detail
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) AND multiple conditions 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
rs121908121 dbSNP
Genome
hg19
Position
chr2:219,754,712-219,754,712
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8648
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)
121340
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.241305422778968E-6
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