SPRR1A small proline rich protein 1A

Information
Symbol
SPRR1A
Type
protein-coding
Description
small proline rich protein 1A
Entrez Gene ID
6698
Genome
hg19
Position
chr1:152,956,557-152,958,290
Genome
hg38
Position
chr1:152,984,081-152,985,814
MIM
182265 OMIM
HGNC
HGNC:11259 HGNC
Ensembl
ENSG00000169474 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
10
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
SYNONYM SPRK
MIM 182265 OMIM
HGNC HGNC:11259 HGNC
Ensembl ENSG00000169474 Ensembl
AllianceGenome HGNC:11259
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368762.2 hg38 chr1 152,984,081 152,985,814 1,734
ENST00000696219.1 hg38 chr1 152,984,088 152,985,534 1,447
ENST00000368762.2 hg19 chr1 152,956,557 152,958,290 1,734
ENST00000696219.1 hg19 chr1 152,956,564 152,958,010 1,447
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