CSHL1 chorionic somatomammotropin hormone like 1

Information
Symbol
CSHL1
Type
protein-coding
Description
chorionic somatomammotropin hormone like 1
Entrez Gene ID
1444
Genome
hg19
Position
chr17:61,986,968-61,988,618
Genome
hg38
Position
chr17:63,909,608-63,911,258
MIM
603515 OMIM
HGNC
HGNC:2442 HGNC
Ensembl
ENSG00000204414 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
Uncertain significance 0 28
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 :
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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 CS-5
SYNONYM CSHP1
SYNONYM CSL
SYNONYM GHB4
SYNONYM hCS-L
MIM 603515 OMIM
HGNC HGNC:2442 HGNC
Ensembl ENSG00000204414 Ensembl
AllianceGenome HGNC:2442
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000438387.6 hg38 chr17 63,909,605 63,911,236 1,632
ENST00000309894.6 hg38 chr17 63,909,608 63,911,258 1,651
ENST00000561003.5 hg38 chr17 63,909,597 63,911,289 1,693
ENST00000346606.10 hg38 chr17 63,909,607 63,911,258 1,652
ENST00000450719.3 hg38 chr17 63,909,616 63,911,328 1,713
ENST00000259003.14 hg38 chr17 63,909,600 63,911,341 1,742
ENST00000561003.5 hg19 chr17 61,986,957 61,988,649 1,693
ENST00000259003.14 hg19 chr17 61,986,960 61,988,701 1,742
ENST00000438387.6 hg19 chr17 61,986,965 61,988,596 1,632
ENST00000346606.10 hg19 chr17 61,986,967 61,988,618 1,652
ENST00000309894.6 hg19 chr17 61,986,968 61,988,618 1,651
ENST00000450719.3 hg19 chr17 61,986,976 61,988,688 1,713
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