chr20:44623054: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	chr20:43,251,695-43,251,695 View the variant detail on this assembly version.
hg38	chr20:44,623,054-44,623,054

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.631C>T	NP_000013.2:p.Arg211Cys
	NM_001322050.1:c.631C>T	NP_001308979.1:p.Arg211Cys
	NM_001322051.1:c.631C>T	NP_001308980.1:p.Arg211Cys
Ensemble	ENST00000372874.9:c.631C>T	ENST00000372874.9:p.Arg211Cys
	ENST00000536076.2:c.478C>T	ENST00000536076.2:p.Arg160Cys
	ENST00000537820.2:c.607-124C>T
	ENST00000695889.1:c.219-124C>T
	ENST00000695927.1:c.709C>T	ENST00000695927.1:p.Arg237Cys
	ENST00000695949.1:c.604-124C>T
	ENST00000695991.1:c.217-124C>T
	ENST00000695993.1:c.631C>T	ENST00000695993.1:p.Arg211Cys
	ENST00000695995.1:c.241C>T	ENST00000695995.1:p.Arg81Cys
	ENST00000696017.1:c.628C>T	ENST00000696017.1:p.Arg210Cys
	ENST00000696058.1:c.628C>T	ENST00000696058.1:p.Arg210Cys
	ENST00000696060.1:c.700C>T	ENST00000696060.1:p.Arg234Cys
	ENST00000696061.1:c.628C>T	ENST00000696061.1:p.Arg210Cys
	ENST00000696062.1:c.694C>T	ENST00000696062.1:p.Arg232Cys
	ENST00000696063.1:c.706C>T	ENST00000696063.1:p.Arg236Cys
	ENST00000696064.1:c.478C>T	ENST00000696064.1:p.Arg160Cys
	ENST00000696065.1:c.66-124C>T
	ENST00000696076.1:c.700C>T	ENST00000696076.1:p.Arg234Cys
	ENST00000696077.1:c.625C>T	ENST00000696077.1:p.Arg209Cys
	ENST00000696078.1:c.628C>T	ENST00000696078.1:p.Arg210Cys
	ENST00000696079.1:c.628C>T	ENST00000696079.1:p.Arg210Cys
	ENST00000696080.1:c.631C>T	ENST00000696080.1:p.Arg211Cys
	ENST00000696082.1:c.706C>T	ENST00000696082.1:p.Arg236Cys

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-879G>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	Likely 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	tgv63825605	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	tgv63825605	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1994-09-01	no assertion criteria provided	Partial adenosine deaminase deficiency	germline	Detail
Likely pathogenic	2024-01-10	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
Likely pathogenic	2022-09-26	criteria provided, single submitter	Severe combined immunodeficiency disease	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.631C>T (p.Arg211Cys) AND Partial adenosine deaminase deficiency	ClinVar	Detail
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) AND Severe combined immunodeficiency disease	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: rs121908740 dbSNP
Genome: hg38
Position: chr20:44,623,054-44,623,054
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8640
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): 121106
Allele Counts in All Race (ExAC): 13
Heterozygous Counts in All Race (ExAC): 13
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.0734397965418725E-4

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