chr19:40257052:C>T Detail (hg38) (AKT2)

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

Genome

Assembly	Position
hg19	chr19:40,762,959-40,762,959 View the variant detail on this assembly version.
hg38	chr19:40,257,052-40,257,052

HGVS

AKT2

Type	Transcript	Protein
RefSeq	NM_001243027.2:c.49G>A	NP_001229956.1:p.Glu17Lys
	NM_001243028.2:c.49G>A	NP_001229957.1:p.Glu17Lys
	NM_001626.5:c.49G>A	NP_001617.1:p.Glu17Lys
	NM_001330511.1:c.49G>A	NP_001317440.1:p.Glu17Lys
Ensemble	ENST00000311278.10:c.49G>A	ENST00000311278.10:p.Glu17Lys
	ENST00000392038.7:c.49G>A	ENST00000392038.7:p.Glu17Lys
	ENST00000424901.5:c.49G>A	ENST00000424901.5:p.Glu17Lys
	ENST00000579047.5:c.-138G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

AKT2

Type	Database	ID	Link
Gene	MIM	164731	OMIM
	HGNC	392	HGNC
	Ensembl	ENSG00000105221	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM159009	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-06-07	no assertion criteria provided	Hypoinsulinemic hypoglycemia and body hemihypertrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001626.6(AKT2):c.49G>A (p.Glu17Lys) AND Hypoinsulinemic hypoglycemia and body hemihypertrophy	ClinVar	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: rs387906659 dbSNP
Genome: hg38
Position: chr19:40,257,052-40,257,052
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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