CARNS1 carnosine synthase 1

Information
Symbol
CARNS1
Type
protein-coding
Description
carnosine synthase 1
Entrez Gene ID
57571
Genome
hg19
Position
chr11:67,183,557-67,193,076
Genome
hg38
Position
chr11:67,416,086-67,425,605
MIM
613368 OMIM
HGNC
HGNC:29268 HGNC
Ensembl
ENSG00000172508 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
not provided 2 0
Uncertain significance 0 128
Ranking
ClinVar
0
0
0
134
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 ATPGD1
MIM 613368 OMIM
HGNC HGNC:29268 HGNC
Ensembl ENSG00000172508 Ensembl
AllianceGenome HGNC:29268
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000687366.1 hg38 chr11 67,415,678 67,425,604 9,927
ENST00000445895.2 hg38 chr11 67,416,086 67,425,605 9,520
ENST00000531040.5 hg38 chr11 67,415,678 67,424,684 9,007
ENST00000307823.7 hg38 chr11 67,415,678 67,425,607 9,930
ENST00000531040.5 hg19 chr11 67,183,149 67,192,155 9,007
ENST00000687366.1 hg19 chr11 67,183,149 67,193,075 9,927
ENST00000307823.7 hg19 chr11 67,183,149 67,193,078 9,930
ENST00000445895.2 hg19 chr11 67,183,557 67,193,076 9,520
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