SH2D1A SH2 domain containing 1A

Information
Symbol
SH2D1A
Type
protein-coding
Description
SH2 domain containing 1A
Entrez Gene ID
4068
Genome
hg19
Position
chrX:123,473,354-123,507,006
Genome
hg38
Position
chrX:124,339,504-124,373,156
MIM
300490 OMIM
HGNC
HGNC:10820 HGNC
Ensembl
ENSG00000183918 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 16 52
Likely pathogenic 0 18
Benign 0 54
Likely benign 0 62
Conflicting classifications of pathogenicity 0 18
not provided 9 0
Uncertain significance 0 76
Ranking
ClinVar
0
0
34
190
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 DSHP
SYNONYM EBVS
SYNONYM IMD5
SYNONYM LYP
SYNONYM MTCP1
SYNONYM SAP
SYNONYM SAP/SH2D1A
SYNONYM XLP
SYNONYM XLPD
SYNONYM XLPD1
MIM 300490 OMIM
HGNC HGNC:10820 HGNC
Ensembl ENSG00000183918 Ensembl
AllianceGenome HGNC:10820
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000698113.1 hg38 chrX 124,339,504 124,373,156 33,653
ENST00000698118.1 hg38 chrX 124,346,608 124,372,839 26,232
ENST00000698116.1 hg38 chrX 124,346,416 124,373,151 26,736
ENST00000360027.5 hg38 chrX 124,346,416 124,372,845 26,430
ENST00000477673.2 hg38 chrX 124,346,589 124,371,488 24,900
ENST00000371139.9 hg38 chrX 124,346,563 124,373,160 26,598
ENST00000494073.5 hg38 chrX 124,346,589 124,371,488 24,900
ENST00000698113.1 hg19 chrX 123,473,354 123,507,006 33,653
ENST00000360027.5 hg19 chrX 123,480,266 123,506,695 26,430
ENST00000698116.1 hg19 chrX 123,480,266 123,507,001 26,736
ENST00000371139.9 hg19 chrX 123,480,413 123,507,010 26,598
ENST00000477673.2 hg19 chrX 123,480,439 123,505,338 24,900
ENST00000494073.5 hg19 chrX 123,480,439 123,505,338 24,900
ENST00000698118.1 hg19 chrX 123,480,458 123,506,689 26,232
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