chr1:209974625:C>T Detail (hg19) (IRF6)

Information

Genome

Assembly Position
hg19 chr1:209,974,625-209,974,625
hg38 chr1:209,801,280-209,801,280 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006147.3:c.134G>A NP_006138.1:p.Arg45Gln
NM_001206696.1:c.-112+4667G>A
Ensemble ENST00000367021.8:c.134G>A ENST00000367021.8:p.Arg45Gln
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
Links
Type Database ID Link
Gene MIM 607199 OMIM
HGNC 6121 HGNC
Ensembl ENSG00000117595 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4642665 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/03/30 other germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-01-01 no assertion criteria provided Van der Woude syndrome 1 germline Detail
Uncertain significance 2022-05-20 criteria provided, single submitter not provided germline Detail
Likely pathogenic no assertion criteria provided Van der Woude syndrome germline Detail
Likely pathogenic 2024-01-15 criteria provided, single submitter Van der Woude syndrome,popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to germline Detail
Likely pathogenic 2024-01-15 criteria provided, single submitter Van der Woude syndrome,popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to germline Detail
Likely pathogenic 2024-01-15 criteria provided, single submitter Van der Woude syndrome,popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.575 Van der Woude syndrome NA CLINVAR Detail
0.575 Van der Woude syndrome Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two misse... UNIPROT 14618417 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND Van der Woude syndrome 1 ClinVar Detail
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND not provided ClinVar Detail
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND Van der Woude syndrome ClinVar Detail
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND multiple conditions ClinVar Detail
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND multiple conditions ClinVar Detail
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q ... 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
rs121434229 dbSNP
Genome
hg19
Position
chr1:209,974,625-209,974,625
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs121434229
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
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)
121388
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)
8.238046594391538E-6
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