chr1:209963884:C>A Detail (hg19) (IRF6)

Information

Genome

Assembly Position
hg19 chr1:209,963,884-209,963,884
hg38 chr1:209,790,539-209,790,539 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006147.3:c.1016G>T NP_006138.1:p.Arg339Ile
NM_001206696.1:c.731G>T NP_001193625.1:p.Arg244Ile
Ensemble ENST00000367021.8:c.1016G>T ENST00000367021.8:p.Arg339Ile
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-06-15 no assertion criteria provided Van der Woude syndrome 1 germline Detail
Pathogenic 2008-06-15 no assertion criteria provided popliteal pterygium syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.575 Van der Woude syndrome NA CLINVAR Detail
0.563 popliteal pterygium syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile) AND Van der Woude syndrome 1 ClinVar Detail
NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile) AND Popliteal pterygium syndrome ClinVar 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
rs121434231 dbSNP
Genome
hg19
Position
chr1:209,963,884-209,963,884
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser