NHERF1 NHERF family PDZ scaffold protein 1

Information
Symbol
NHERF1
Type
protein-coding
Description
NHERF family PDZ scaffold protein 1
Entrez Gene ID
9368
Genome
hg19
Position
chr17:72,744,767-72,765,492
Genome
hg38
Position
chr17:74,748,628-74,769,353
MIM
604990 OMIM
HGNC
HGNC:11075 HGNC
Ensembl
ENSG00000109062 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 34
Likely benign 0 90
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 148
Ranking
ClinVar
0
0
52
194
14
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 EBP50
SYNONYM NHE-RF
SYNONYM NHERF
SYNONYM NHERF-1
SYNONYM NPHLOP2
SYNONYM SLC9A3R1
MIM 604990 OMIM
HGNC HGNC:11075 HGNC
Ensembl ENSG00000109062 Ensembl
AllianceGenome HGNC:11075
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262613.10 hg38 chr17 74,748,628 74,769,353 20,726
ENST00000413388.2 hg38 chr17 74,762,003 74,769,296 7,294
ENST00000262613.10 hg19 chr17 72,744,767 72,765,492 20,726
ENST00000413388.2 hg19 chr17 72,758,142 72,765,435 7,294
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