NDP norrin cystine knot growth factor NDP

Information
Symbol
NDP
Type
protein-coding
Description
norrin cystine knot growth factor NDP
Entrez Gene ID
4693
Genome
hg19
Position
chrX:43,808,037-43,832,641
Genome
hg38
Position
chrX:43,948,791-43,973,395
MIM
300658 OMIM
HGNC
HGNC:7678 HGNC
Ensembl
ENSG00000124479 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 76
Likely pathogenic 0 48
Benign 0 18
Likely benign 0 58
Conflicting classifications of pathogenicity 0 16
not provided 6 2
Uncertain significance 0 88
Ranking
ClinVar
0
0
36
214
32
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 EVR2
SYNONYM FEVR
SYNONYM ND
MIM 300658 OMIM
HGNC HGNC:7678 HGNC
Ensembl ENSG00000124479 Ensembl
AllianceGenome HGNC:7678
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647044.1 hg38 chrX 43,948,791 43,973,395 24,605
ENST00000642620.1 hg38 chrX 43,948,776 43,973,390 24,615
ENST00000642620.1 hg19 chrX 43,808,022 43,832,636 24,615
ENST00000647044.1 hg19 chrX 43,808,037 43,832,641 24,605
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