PITX1 paired like homeodomain 1

Information
Symbol
PITX1
Type
protein-coding
Description
paired like homeodomain 1
Entrez Gene ID
5307
Genome
hg19
Position
chr5:134,363,424-134,369,918
Genome
hg38
Position
chr5:135,027,734-135,034,228
MIM
602149 OMIM
HGNC
HGNC:9004 HGNC
Ensembl
ENSG00000069011 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 12
Benign 0 26
Likely benign 0 22
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 82
Ranking
ClinVar
0
0
12
130
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM BFT
SYNONYM CCF
SYNONYM LBNBG
SYNONYM POTX
SYNONYM PTX1
MIM 602149 OMIM
HGNC HGNC:9004 HGNC
Ensembl ENSG00000069011 Ensembl
AllianceGenome HGNC:9004
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265340.12 hg38 chr5 135,027,734 135,034,228 6,495
ENST00000506438.5 hg38 chr5 135,028,553 135,034,634 6,082
ENST00000265340.12 hg19 chr5 134,363,424 134,369,918 6,495
ENST00000506438.5 hg19 chr5 134,364,243 134,370,324 6,082
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