chr6:100388146:T>C Detail (hg38) (SIM1)

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Information

Genome

Assembly	Position
hg19	chr6:100,836,022-100,836,022 View the variant detail on this assembly version.
hg38	chr6:100,388,146-100,388,146

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000369208.8:c.*2215A>G

Summary

Links

Type	Database	ID	Link
Gene	MIM	603128	OMIM
	HGNC	10882	HGNC
	Ensembl	ENSG00000112246	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv26383706	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
<0.001	obesity	A nominal evidence of association was found for the nonsynonymous variant P352T ...	BeFree	20075856	Detail

Annotation

Descrption	Source	Links
A nominal evidence of association was found for the nonsynonymous variant P352T C/A (rs3734354) (P =...	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: rs9386126 dbSNP
Genome: hg38
Position: chr6:100,388,146-100,388,146
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs9386126
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.604
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 10123
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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