chr19:10397238:C>T Detail (hg19) (ICAM1)

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Information

Genome

Assembly	Position
hg19	chr19:10,397,238-10,397,238
hg38	chr19:10,286,562-10,286,562 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq	NM_000201.2:c.*1275C>T
Ensemble	ENST00000264832.8:c.*1275C>T

Summary

Links

Type	Database	ID	Link
Gene	MIM	147840	OMIM
	HGNC	5344	HGNC
	Ensembl	ENSG00000090339	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv61160412	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.008	Fibrosis, Liver	The present study revealed associations between the ICAM-1 gene marker, rs281437...	BeFree	23137758	Detail

Annotation

Descrption	Source	Links
The present study revealed associations between the ICAM-1 gene marker, rs281437, and the progressio...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs281437 dbSNP
Genome: hg19
Position: chr19:10,397,238-10,397,238
Variant Type: snv
Reference Allele: C
Alternative Allele: T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs281437
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0493
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 827
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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