KRT12 keratin 12

Information
Symbol
KRT12
Type
protein-coding
Description
keratin 12
Entrez Gene ID
3859
Genome
hg19
Position
chr17:39,017,555-39,023,475
Genome
hg38
Position
chr17:40,861,303-40,867,223
MIM
601687 OMIM
HGNC
HGNC:6414 HGNC
Ensembl
ENSG00000187242 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 20 16
Likely pathogenic 0 6
Benign 6 18
Likely benign 0 14
Conflicting classifications of pathogenicity 0 4
not provided 0 20
Uncertain significance 0 44
Ranking
ClinVar
0
0
8
76
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
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 K12
SYNONYM MECD1
MIM 601687 OMIM
HGNC HGNC:6414 HGNC
Ensembl ENSG00000187242 Ensembl
AllianceGenome HGNC:6414
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000251643.5 hg38 chr17 40,861,303 40,867,223 5,921
ENST00000251643.5 hg19 chr17 39,017,555 39,023,475 5,921
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