chr7:155082904:C>T Detail (hg38) (HTR5A)

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Information

Genome

Assembly	Position
hg19	chr7:154,874,614-154,874,614 View the variant detail on this assembly version.
hg38	chr7:155,082,904-155,082,904

Type	Transcript	Protein
RefSeq	NM_024012.3:c.742-1251C>T
Ensemble	ENST00000287907.3:c.742-1251C>T

Summary

Links

Type	Database	ID	Link
Gene	MIM	601305	OMIM
	HGNC	5300	HGNC
	Ensembl	ENSG00000157219	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv31592517	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
0.188	Mood Disorders	Three genes contributed exclusively to mood disorders, one through a main effect...	BeFree	19381154	Detail
0.018	Mood Disorders	Three genes contributed exclusively to mood disorders, one through a main effect...	BeFree	19381154	Detail

Annotation

Descrption	Source	Links
Three genes contributed exclusively to mood disorders, one through a main effect (HTR5A (rs1657268))...	DisGeNET	Detail
Three genes contributed exclusively to mood disorders, one through a main effect (HTR5A (rs1657268))...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1657268 dbSNP
Genome: hg38
Position: chr7:155,082,904-155,082,904
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)): rs1657268
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.7221
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 12101
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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