chr1:209963014:G>A Detail (hg19) (IRF6)

Information

Genome

Assembly Position
hg19 chr1:209,963,014-209,963,014
hg38 chr1:209,789,669-209,789,669 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006147.3:c.1177C>T NP_006138.1:p.Gln393Ter
NM_001206696.1:c.892C>T NP_001193625.1:p.Gln298Ter
Ensemble ENST00000367021.8:c.1177C>T ENST00000367021.8:p.Gln393Ter
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 2002-10-01 no assertion criteria provided popliteal pterygium syndrome 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.1177C>T (p.Gln393Ter) AND Popliteal pterygium syndrome 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
rs121434225 dbSNP
Genome
hg19
Position
chr1:209,963,014-209,963,014
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser