chr1:209974743:G>A Detail (hg19) (IRF6)

Information

Genome

Assembly Position
hg19 chr1:209,974,743-209,974,743
hg38 chr1:209,801,398-209,801,398 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001206696.1:c.-112+4549C>T
NM_006147.3:c.16C>T NP_006138.1:p.Arg6Cys
Ensemble ENST00000542854.5:c.-112+4549C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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
COSMIC COSM4143299 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-10-01 no assertion criteria provided Van der Woude syndrome 1 germline Detail
Likely pathogenic 2016-07-13 criteria provided, single submitter not provided germline Detail
Pathogenic 2015-08-31 criteria provided, single submitter cleft palate unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Orofacial cleft 6, susceptibility to,Van der Woude syndrome 1,popliteal pterygium syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Orofacial cleft 6, susceptibility to,Van der Woude syndrome 1,popliteal pterygium syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Orofacial cleft 6, susceptibility to,Van der Woude syndrome 1,popliteal pterygium syndrome unknown 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 mutations in the IRF6 gene for Van der Woude syndrome. UNIPROT 12920575 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) AND Van der Woude syndrome 1 ClinVar Detail
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) AND not provided ClinVar Detail
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) AND Cleft palate ClinVar Detail
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) AND multiple conditions ClinVar Detail
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) AND multiple conditions ClinVar Detail
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Novel mutations in the IRF6 gene for Van der Woude syndrome. 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
rs28942094 dbSNP
Genome
hg19
Position
chr1:209,974,743-209,974,743
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser