SPTA1 spectrin alpha, erythrocytic 1

Information
Symbol
SPTA1
Type
protein-coding
Description
spectrin alpha, erythrocytic 1
Entrez Gene ID
6708
Genome
hg19
Position
chr1:158,580,494-158,656,505
Genome
hg38
Position
chr1:158,610,704-158,686,715
MIM
182860 OMIM
HGNC
HGNC:11272 HGNC
Ensembl
ENSG00000163554 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 152
Likely pathogenic 0 186
Benign 0 262
Likely benign 0 222
Conflicting classifications of pathogenicity 0 280
Uncertain significance 0 976
Ranking
ClinVar
0
0
354
1,334
22
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 :
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 EL2
SYNONYM HPP
SYNONYM HS3
SYNONYM SPH3
SYNONYM SPTA
MIM 182860 OMIM
HGNC HGNC:11272 HGNC
Ensembl ENSG00000163554 Ensembl
AllianceGenome HGNC:11272
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000643759.2 hg38 chr1 158,610,704 158,686,715 76,012
ENST00000643759.2 hg19 chr1 158,580,494 158,656,505 76,012
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