chr3:87260082:C>T Detail (hg38) (POU1F1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr3:87,309,232-87,309,232 View the variant detail on this assembly version.
hg38	chr3:87,260,082-87,260,082

HGVS

POU1F1

Type	Transcript	Protein
RefSeq	NM_001122757.2:c.766G>A	NP_001116229.1:p.Glu256Lys
	NM_000306.3:c.688G>A	NP_000297.1:p.Glu230Lys
Ensemble	ENST00000344265.8:c.766G>A	ENST00000344265.8:p.Glu256Lys
	ENST00000350375.7:c.688G>A	ENST00000350375.7:p.Glu230Lys
	ENST00000560656.1:c.462G>A	ENST00000560656.1:p.Trp154Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

POU1F1

Type	Database	ID	Link
Gene	MIM	173110	OMIM
	HGNC	9210	HGNC
	Ensembl	ENSG00000064835	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-06-30	criteria provided, single submitter	Pituitary hormone deficiency, combined, 1	germline	Detail
Pathogenic	2023-07-13	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Pituitary hormone deficiency, combined, 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys) AND Pituitary hormone deficiency, combined, 1	ClinVar	Detail
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

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

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs104893764 dbSNP
Genome: hg38
Position: chr3:87,260,082-87,260,082
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8272
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 115952
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.5872774941355043E-5

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