chr1:209961898:G>A Detail (hg19) (IRF6)

Information

Genome

Assembly Position
hg19 chr1:209,961,898-209,961,898
hg38 chr1:209,788,553-209,788,553 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001206696.1:c.986C>T NP_001193625.1:p.Ser329Leu
NM_006147.3:c.1271C>T NP_006138.1:p.Ser424Leu
Ensemble ENST00000542854.5:c.986C>T ENST00000542854.5:p.Ser329Leu
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 COSM4463024 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-09-01 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.1271C>T (p.Ser424Leu) 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
rs387906968 dbSNP
Genome
hg19
Position
chr1:209,961,898-209,961,898
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser