chr20:44625601:C>T Detail (hg38) (ADA)

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

Genome

Assembly	Position
hg19	chr20:43,254,242-43,254,242 View the variant detail on this assembly version.
hg38	chr20:44,625,601-44,625,601

HGVS

ADA

Type	Transcript	Protein
RefSeq	NM_000022.3:c.446G>A	NP_000013.2:p.Arg149Gln
	NM_001322050.1:c.446G>A	NP_001308979.1:p.Arg149Gln
	NM_001322051.1:c.446G>A	NP_001308980.1:p.Arg149Gln
Ensemble	ENST00000372874.9:c.446G>A	ENST00000372874.9:p.Arg149Gln
	ENST00000536076.2:c.293G>A	ENST00000536076.2:p.Arg98Gln
	ENST00000537820.2:c.446G>A	ENST00000537820.2:p.Arg149Gln
	ENST00000695889.1:c.219-2671G>A
	ENST00000695927.1:c.524G>A	ENST00000695927.1:p.Arg175Gln
	ENST00000695949.1:c.443G>A	ENST00000695949.1:p.Arg148Gln
	ENST00000695991.1:c.217-2671G>A
	ENST00000695993.1:c.446G>A	ENST00000695993.1:p.Arg149Gln
	ENST00000695995.1:c.217-2523G>A
	ENST00000696017.1:c.443G>A	ENST00000696017.1:p.Arg148Gln
	ENST00000696058.1:c.446G>A	ENST00000696058.1:p.Arg149Gln
	ENST00000696060.1:c.446G>A	ENST00000696060.1:p.Arg149Gln
	ENST00000696061.1:c.443G>A	ENST00000696061.1:p.Arg148Gln
	ENST00000696062.1:c.509G>A	ENST00000696062.1:p.Arg170Gln
	ENST00000696063.1:c.521G>A	ENST00000696063.1:p.Arg174Gln
	ENST00000696064.1:c.293G>A	ENST00000696064.1:p.Arg98Gln
	ENST00000696065.1:c.66-2671G>A
	ENST00000696076.1:c.446G>A	ENST00000696076.1:p.Arg149Gln
	ENST00000696077.1:c.443G>A	ENST00000696077.1:p.Arg148Gln
	ENST00000696078.1:c.446G>A	ENST00000696078.1:p.Arg149Gln
	ENST00000696079.1:c.446G>A	ENST00000696079.1:p.Arg149Gln
	ENST00000696080.1:c.446G>A	ENST00000696080.1:p.Arg149Gln
	ENST00000696082.1:c.524G>A	ENST00000696082.1:p.Arg175Gln

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

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	tgv291922388	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1990-08-01	no assertion criteria provided	Partial adenosine deaminase deficiency	germline	Detail
Uncertain significance	2023-11-14	reviewed by expert panel	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	germline unknown	Detail
Uncertain significance	2022-10-13	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Partial adenosine deaminase deficiency	NA	CLINVAR		Detail
0.324	SCID Due to ADA Deficiency, Early-Onset	Hot spot mutations in adenosine deaminase deficiency.	UNIPROT	2166947	Detail
0.324	SCID Due to ADA Deficiency, Early-Onset	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) AND Partial adenosine deaminase deficiency	ClinVar	Detail
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
Hot spot mutations in adenosine deaminase deficiency.	DisGeNET	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: rs121908737 dbSNP
Genome: hg38
Position: chr20:44,625,601-44,625,601
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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