TTYH1 tweety family member 1

Information
Symbol
TTYH1
Type
protein-coding
Description
tweety family member 1
Entrez Gene ID
57348
Genome
hg19
Position
chr19:54,926,700-54,947,899
Genome
hg38
Position
chr19:54,415,526-54,436,719
MIM
605784 OMIM
HGNC
HGNC:13476 HGNC
Ensembl
ENSG00000167614 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
42
0
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
MIM 605784 OMIM
HGNC HGNC:13476 HGNC
Ensembl ENSG00000167614 Ensembl
AllianceGenome HGNC:13476
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376530.8 hg38 chr19 54,415,464 54,436,904 21,441
ENST00000376531.3 hg38 chr19 54,415,526 54,436,719 21,194
ENST00000301194.8 hg38 chr19 54,415,431 54,436,900 21,470
ENST00000301194.8 hg19 chr19 54,926,605 54,948,080 21,476
ENST00000376530.8 hg19 chr19 54,926,638 54,948,084 21,447
ENST00000376531.3 hg19 chr19 54,926,700 54,947,899 21,200
Genome browser