chr1:33487247:T>C Detail (hg19) (AK2)

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

Genome

Assembly	Position
hg19	chr1:33,487,247-33,487,247
hg38	chr1:33,021,646-33,021,646 View the variant detail on this assembly version.

HGVS

AK2

Type	Transcript	Protein
RefSeq	NM_001199199.1:c.277A>G	NP_001186128.1:p.Lys93Glu
	NM_001319139.1:c.277A>G	NP_001306068.1:p.Lys93Glu
	NM_013411.4:c.277A>G	NP_037543.1:p.Lys93Glu
	NM_001319141.1:c.277A>G	NP_001306070.1:p.Lys93Glu
	NM_001319142.1:c.151A>G	NP_001306071.1:p.Lys51Glu
	NM_001625.3:c.151A>G	NP_001616.1:p.Lys51Glu
	NM_001319143.1:c.277A>G	NP_001306072.1:p.Lys93Glu
Ensemble	ENST00000672715.1:c.277A>G	ENST00000672715.1:p.Lys93Glu
	ENST00000373449.7:c.277A>G	ENST00000373449.7:p.Lys93Glu
	ENST00000467905.5:c.277A>G	ENST00000467905.5:p.Lys93Glu
	ENST00000673291.1:c.277A>G	ENST00000673291.1:p.Lys93Glu
	ENST00000548033.5:c.151A>G	ENST00000548033.5:p.Lys51Glu
	ENST00000354858.11:c.151A>G	ENST00000354858.11:p.Lys51Glu
	ENST00000487289.1:c.277A>G	ENST00000487289.1:p.Lys93Glu
	ENST00000480134.5:c.277A>G	ENST00000480134.5:p.Lys93Glu

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	Uncertain significance
Review star
Show details

Links

AK2

Type	Database	ID	Link
Gene	MIM	103020	OMIM
	HGNC	362	HGNC
	Ensembl	ENSG00000004455	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
Uncertain significance	2020-10-01	criteria provided, single submitter	reticular dysgenesis	germline	Detail
Uncertain significance	2022-12-19	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001625.4(AK2):c.277A>G (p.Lys93Glu) AND Reticular dysgenesis	ClinVar	Detail
NM_001625.4(AK2):c.277A>G (p.Lys93Glu) AND Inborn genetic diseases	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: rs767276648 dbSNP
Genome: hg19
Position: chr1:33,487,247-33,487,247
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8650
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): 121122
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.256138438929344E-6

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