TMEM147 transmembrane protein 147

Information
Symbol
TMEM147
Type
protein-coding
Description
transmembrane protein 147
Entrez Gene ID
10430
Genome
hg19
Position
chr19:36,036,528-36,038,428
Genome
hg38
Position
chr19:35,545,626-35,547,526
MIM
613585 OMIM
HGNC
HGNC:30414 HGNC
Ensembl
ENSG00000105677 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Benign 0 2
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
4
60
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 NEDFLPH
SYNONYM NIFIE14
MIM 613585 OMIM
HGNC HGNC:30414 HGNC
Ensembl ENSG00000105677 Ensembl
AllianceGenome HGNC:30414
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392205.2 hg38 chr19 35,545,681 35,547,397 1,717
ENST00000392204.6 hg38 chr19 35,545,630 35,547,526 1,897
ENST00000222284.10 hg38 chr19 35,545,626 35,547,526 1,901
ENST00000222284.10 hg19 chr19 36,036,528 36,038,428 1,901
ENST00000392204.6 hg19 chr19 36,036,532 36,038,428 1,897
ENST00000392205.2 hg19 chr19 36,036,583 36,038,299 1,717
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