chr20:44620391:G>A 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	chr20:43,249,032-43,249,032 View the variant detail on this assembly version.
hg38	chr20:44,620,391-44,620,391

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.986C>T	NP_000013.2:p.Ala329Val
	NM_001322050.1:c.986C>T	NP_001308979.1:p.Ala329Val
	NM_001322051.1:c.986C>T	NP_001308980.1:p.Ala329Val
Ensemble	ENST00000372874.9:c.986C>T	ENST00000372874.9:p.Ala329Val
	ENST00000536076.2:c.833C>T	ENST00000536076.2:p.Ala278Val
	ENST00000537820.2:c.914C>T	ENST00000537820.2:p.Ala305Val
	ENST00000695889.1:c.461C>T	ENST00000695889.1:p.Ala154Val
	ENST00000695927.1:c.1064C>T	ENST00000695927.1:p.Ala355Val
	ENST00000695949.1:c.911C>T	ENST00000695949.1:p.Ala304Val
	ENST00000695991.1:c.524C>T	ENST00000695991.1:p.Ala175Val
	ENST00000695993.1:c.986C>T	ENST00000695993.1:p.Ala329Val
	ENST00000695995.1:c.596C>T	ENST00000695995.1:p.Ala199Val
	ENST00000696017.1:c.983C>T	ENST00000696017.1:p.Ala328Val
	ENST00000696058.1:c.983C>T	ENST00000696058.1:p.Ala328Val
	ENST00000696060.1:c.1055C>T	ENST00000696060.1:p.Ala352Val
	ENST00000696061.1:c.983C>T	ENST00000696061.1:p.Ala328Val
	ENST00000696062.1:c.1049C>T	ENST00000696062.1:p.Ala350Val
	ENST00000696063.1:c.1061C>T	ENST00000696063.1:p.Ala354Val
	ENST00000696064.1:c.833C>T	ENST00000696064.1:p.Ala278Val
	ENST00000696065.1:c.308C>T	ENST00000696065.1:p.Ala103Val
	ENST00000696076.1:c.1055C>T	ENST00000696076.1:p.Ala352Val
	ENST00000696077.1:c.980C>T	ENST00000696077.1:p.Ala327Val
	ENST00000696078.1:c.983C>T	ENST00000696078.1:p.Ala328Val
	ENST00000696079.1:c.983C>T	ENST00000696079.1:p.Ala328Val
	ENST00000696080.1:c.986C>T	ENST00000696080.1:p.Ala329Val
	ENST00000696082.1:c.1061C>T	ENST00000696082.1:p.Ala354Val

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-3542G>A

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	Pathogenic
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	tgv408339178	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	tgv408339178	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-02-21	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
Pathogenic	2023-02-28	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2019-06-03	criteria provided, single submitter	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	germline	Detail
Pathogenic	2023-12-03	criteria provided, single submitter	ADA-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.324	SCID Due to ADA Deficiency, Early-Onset	NA	CLINVAR		Detail
0.324	SCID Due to ADA Deficiency, Early-Onset	Mutant human adenosine deaminase alleles and their expression by transfection in...	UNIPROT	3182793	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.986C>T (p.Ala329Val) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.986C>T (p.Ala329Val) AND not provided	ClinVar	Detail
NM_000022.4(ADA):c.986C>T (p.Ala329Val) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.986C>T (p.Ala329Val) AND ADA-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.	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: rs121908715 dbSNP
Genome: hg38
Position: chr20:44,620,391-44,620,391
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8648
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1563367252543941E-4
Chromosome Counts in All Race (ExAC): 121374
Allele Counts in All Race (ExAC): 9
Heterozygous Counts in All Race (ExAC): 9
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.415097137772504E-5

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