GDF1 growth differentiation factor 1

Information
Symbol
GDF1
Type
protein-coding
Description
growth differentiation factor 1
Entrez Gene ID
2657
Genome
hg19
Position
chr19:18,979,354-19,006,967
Genome
hg38
Position
chr19:18,868,545-18,896,158
MIM
602880 OMIM
HGNC
HGNC:4214 HGNC
Ensembl
ENSG00000130283 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 32
Benign 0 28
Likely benign 0 354
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 440
Ranking
ClinVar
0
0
98
768
4
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 :
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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 CERS1
SYNONYM CHTD6
SYNONYM DORV
SYNONYM DTGA3
SYNONYM LAG1
SYNONYM LASS1
SYNONYM RAI
SYNONYM UOG1
MIM 602880 OMIM
HGNC HGNC:4214 HGNC
Ensembl ENSG00000130283 Ensembl
AllianceGenome HGNC:4214
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000247005.8 hg38 chr19 18,868,545 18,896,158 27,614
ENST00000247005.8 hg19 chr19 18,979,354 19,006,967 27,614
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