chr1:33013403:>GT Detail (hg38) (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	chr1:33,479,004-33,479,004
hg38	chr1:33,013,403-33,013,403

HGVS

AK2

Type	Transcript	Protein
RefSeq	NM_001625.3:c.373-2_373-1insAC
	NM_001199199.1:c.499-2_499-1insAC
	NM_001319139.1:c.499-2_499-1insAC
	NM_013411.4:c.499-2_499-1insAC
	NM_001319141.1:c.499-2_499-1insAC
	NM_001319143.1:c.2-2_2-1insAC
	NM_001319142.1:c.373-2_373-1insAC
Ensemble	ENST00000354858.11:c.373-2_373-1insAC
	ENST00000373449.7:c.499-2_499-1insAC
	ENST00000467905.5:c.499-2_499-1insAC
	ENST00000480134.5:c.2-2_2-1insAC
	ENST00000548033.5:c.373-2_373-1insAC
	ENST00000672715.1:c.499-2_499-1insAC

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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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
Likely pathogenic	2022-01-11	criteria provided, single submitter	Severe combined immunodeficiency disease	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001625.4(AK2):c.498_499dup (p.Ile167fs) AND Severe combined immunodeficiency disease	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1638975235 dbSNP
Genome: hg38
Position: chr1:33,013,403-33,013,403
Variant Type: snv
Reference Allele: -
Alternative Allele: GT

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