chr2:73927061:C>T Detail (hg38) (DGUOK, LOC129934096)

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

Information

Genome

Assembly	Position
hg19	chr2:74,154,188-74,154,188 View the variant detail on this assembly version.
hg38	chr2:73,927,061-73,927,061

HGVS

DGUOK

Type	Transcript	Protein
RefSeq	NM_001318860.1:c.142+9C>T
	NM_001318861.1:c.142+9C>T
	NM_001318862.1:c.142+9C>T
	NM_001318863.1:c.142+9C>T
	NM_080916.2:c.142+9C>T
	NM_001318859.1:c.142+9C>T
	NM_080918.2:c.142+9C>T
	NR_134894.1:c.142+9C>T
	NR_134898.1:c.142+9C>T
Ensemble	ENST00000264093.9:c.142+9C>T
	ENST00000348222.3:c.142+9C>T
	ENST00000629438.2:c.142+9C>T

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	Benign Likely benign
Review star
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Links

DGUOK

Type	Database	ID	Link
Gene	MIM	601465	OMIM
	HGNC	2858	HGNC
	Ensembl	ENSG00000114956	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv309005603	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2016-10-26	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2024-01-31	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2019-11-11	criteria provided, single submitter	DGUOK-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_080916.3(DGUOK):c.142+9C>T AND not specified	ClinVar	Detail
NM_080916.3(DGUOK):c.142+9C>T AND not provided	ClinVar	Detail
NM_080916.3(DGUOK):c.142+9C>T AND DGUOK-related disorder	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs377000908 dbSNP
Genome: hg38
Position: chr2:73,927,061-73,927,061
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8354
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): 115744
Allele Counts in All Race (ExAC): 30
Heterozygous Counts in All Race (ExAC): 30
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.591927011335361E-4

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