chr1:209969822:G>A Detail (hg19) (IRF6)

Information

Genome

Assembly Position
hg19 chr1:209,969,822-209,969,822
hg38 chr1:209,796,477-209,796,477 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001206696.1:c.-36C>T
NM_006147.3:c.250C>T NP_006138.1:p.Arg84Cys
Ensemble ENST00000542854.5:c.-36C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM3385719 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-10-01 no assertion criteria provided popliteal pterygium syndrome germline Detail
Pathogenic 2022-01-17 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-05-26 criteria provided, single submitter Autosomal dominant popliteal pterygium syndrome de novo germline Detail
Pathogenic 2023-07-19 criteria provided, single submitter popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to,Van der Woude syndrome germline Detail
Pathogenic 2023-07-19 criteria provided, single submitter popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to,Van der Woude syndrome germline Detail
Pathogenic 2023-07-19 criteria provided, single submitter popliteal pterygium syndrome,Orofacial cleft 6, susceptibility to,Van der Woude syndrome germline Detail
Pathogenic 2024-01-08 criteria provided, single submitter IRF6-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.563 popliteal pterygium syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND Popliteal pterygium syndrome ClinVar Detail
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND not provided ClinVar Detail
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND Autosomal dominant popliteal pterygium syndrome ClinVar Detail
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND multiple conditions ClinVar Detail
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND multiple conditions ClinVar Detail
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND multiple conditions ClinVar Detail
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) AND IRF6-related disorder ClinVar 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
rs121434226 dbSNP
Genome
hg19
Position
chr1:209,969,822-209,969,822
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser