chr1:243695714:C>T Detail (hg38) (AKT3)

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

Genome

Assembly	Position
hg19	chr1:243,859,016-243,859,016 View the variant detail on this assembly version.
hg38	chr1:243,695,714-243,695,714

HGVS

AKT3

Type	Transcript	Protein
RefSeq	NM_005465.4:c.49G>A	NP_005456.1:p.Glu17Lys
	NM_181690.2:c.49G>A	NP_859029.1:p.Glu17Lys
	NM_001206729.1:c.49G>A	NP_001193658.1:p.Glu17Lys
Ensemble	ENST00000263826.12:c.49G>A	ENST00000263826.12:p.Glu17Lys
	ENST00000336199.9:c.49G>A	ENST00000336199.9:p.Glu17Lys
	ENST00000366539.6:c.49G>A	ENST00000366539.6:p.Glu17Lys
	ENST00000366540.5:c.49G>A	ENST00000366540.5:p.Glu17Lys
	ENST00000492957.2:c.49G>A	ENST00000492957.2:p.Glu17Lys
	ENST00000672238.1:c.49G>A	ENST00000672238.1:p.Glu17Lys
	ENST00000672578.1:c.-135G>A
	ENST00000673400.1:c.49G>A	ENST00000673400.1:p.Glu17Lys
	ENST00000673466.1:c.49G>A	ENST00000673466.1:p.Glu17Lys
	ENST00000680056.1:c.47-30831G>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

AKT3

Type	Database	ID	Link
Gene	MIM	611223	OMIM
	HGNC	393	HGNC
	Ensembl	ENSG00000117020	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1134860	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2012-06-24	no assertion criteria provided	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	somatic	Detail
Pathogenic	2022-02-12	reviewed by expert panel	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
melanoma	Vemurafenib	D	Predictive	Supports	Resistance	Somatic	3	24265155	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype AKT3 and BRA...	CIViC Evidence	Detail
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) AND Megalencephaly-polymicrogyria-polydactyly-hydrocephalus s...	ClinVar	Detail
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) AND Overgrowth syndrome and/or cerebral malformations due to ...	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: rs397514606 dbSNP
Genome: hg38
Position: chr1:243,695,714-243,695,714
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): E17K
Transcript 1 (CIViC Variant): ENST00000366539.1
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1227

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