chr20:44619862:A>T Detail (hg38) (ADA, PKIG)

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

Information

Genome

Assembly	Position
hg19	chr20:43,248,503-43,248,503 View the variant detail on this assembly version.
hg38	chr20:44,619,862-44,619,862

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.1079-15T>A
	NM_001322050.1:c.1079-15T>A
	NM_001322051.1:c.1079-15T>A
Ensemble	ENST00000372874.9:c.1079-15T>A
	ENST00000536076.2:c.926-15T>A
	ENST00000537820.2:c.1007-15T>A
	ENST00000695889.1:c.554-15T>A
	ENST00000695927.1:c.1157-15T>A
	ENST00000695949.1:c.1004-15T>A
	ENST00000695991.1:c.617-15T>A
	ENST00000695993.1:c.1162T>A	ENST00000695993.1:p.Ter388Argext*?
	ENST00000695995.1:c.689-15T>A
	ENST00000696017.1:c.*258T>A
	ENST00000696058.1:c.1159T>A	ENST00000696058.1:p.Ter387Argext*?
	ENST00000696060.1:c.1148-15T>A
	ENST00000696061.1:c.1076-15T>A
	ENST00000696062.1:c.1142-15T>A
	ENST00000696063.1:c.1154-15T>A
	ENST00000696064.1:c.926-15T>A
	ENST00000696065.1:c.401-15T>A
	ENST00000696076.1:c.*258T>A
	ENST00000696077.1:c.1073-15T>A
	ENST00000696078.1:c.1076-15T>A
	ENST00000696079.1:c.1076-20T>A
	ENST00000696080.1:c.1079-20T>A
	ENST00000696082.1:c.1154-15T>A

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-4071A>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

ADA
PKIG

Type	Database	ID	Link
Gene	MIM	608958	OMIM
	HGNC	186	HGNC
	Ensembl	ENSG00000196839	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	604932	OMIM
	HGNC	9019	HGNC
	Ensembl	ENSG00000168734	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
Pathogenic	2002-02-01	no assertion criteria provided	SCID due to ADA deficiency, delayed onset	germline	Detail
Pathogenic	2002-02-01	no assertion criteria provided	SCID due to ADA deficiency, delayed onset	unknown	Detail
Uncertain significance	2024-03-17	criteria provided, single submitter	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	SCID due to ADA deficiency, delayed onset	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.1079-15T>A AND SCID due to ADA deficiency, delayed onset	ClinVar	Detail
NM_000022.4(ADA):c.[1079-14_1079-4del;1079-15T>A] AND SCID due to ADA deficiency, delayed onset	ClinVar	Detail
NM_000022.4(ADA):c.1079-15T>A AND Severe combined immunodeficiency, autosomal recessive, T cell-nega...	ClinVar	Detail
NA	DisGeNET	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: rs387906268 dbSNP
Genome: hg38
Position: chr20:44,619,862-44,619,862
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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