chr20:44625581:G>A 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	chr20:43,254,222-43,254,222 View the variant detail on this assembly version.
hg38	chr20:44,625,581-44,625,581

HGVS

ADA

Type	Transcript	Protein
RefSeq	NM_000022.3:c.466C>T	NP_000013.2:p.Arg156Cys
	NM_001322050.1:c.466C>T	NP_001308979.1:p.Arg156Cys
	NM_001322051.1:c.466C>T	NP_001308980.1:p.Arg156Cys
Ensemble	ENST00000696060.1:c.466C>T	ENST00000696060.1:p.Arg156Cys
	ENST00000695949.1:c.463C>T	ENST00000695949.1:p.Arg155Cys
	ENST00000696061.1:c.463C>T	ENST00000696061.1:p.Arg155Cys
	ENST00000696062.1:c.529C>T	ENST00000696062.1:p.Arg177Cys
	ENST00000695995.1:c.217-2503C>T
	ENST00000696063.1:c.541C>T	ENST00000696063.1:p.Arg181Cys
	ENST00000696064.1:c.313C>T	ENST00000696064.1:p.Arg105Cys
	ENST00000696065.1:c.66-2651C>T
	ENST00000696076.1:c.466C>T	ENST00000696076.1:p.Arg156Cys
	ENST00000696077.1:c.463C>T	ENST00000696077.1:p.Arg155Cys
	ENST00000696078.1:c.466C>T	ENST00000696078.1:p.Arg156Cys
	ENST00000372874.9:c.466C>T	ENST00000372874.9:p.Arg156Cys
	ENST00000696080.1:c.466C>T	ENST00000696080.1:p.Arg156Cys
	ENST00000696082.1:c.544C>T	ENST00000696082.1:p.Arg182Cys
	ENST00000695927.1:c.544C>T	ENST00000695927.1:p.Arg182Cys
	ENST00000695993.1:c.466C>T	ENST00000695993.1:p.Arg156Cys
	ENST00000695889.1:c.219-2651C>T
	ENST00000537820.2:c.466C>T	ENST00000537820.2:p.Arg156Cys
	ENST00000536076.2:c.313C>T	ENST00000536076.2:p.Arg105Cys
	ENST00000695991.1:c.217-2651C>T
	ENST00000696058.1:c.466C>T	ENST00000696058.1:p.Arg156Cys
	ENST00000696017.1:c.463C>T	ENST00000696017.1:p.Arg155Cys
	ENST00000696079.1:c.466C>T	ENST00000696079.1:p.Arg156Cys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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 Likely pathogenic
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	tgv408339367	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000073 (TMGS000167)	Kenjiro Kosaki	Keio University IRUD
Pathogenic		other	germline	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-01-11	criteria provided, multiple submitters, no conflicts	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	germline unknown	Detail
Pathogenic	2018-08-02	criteria provided, single submitter	Severe combined immunodeficiency disease	germline	Detail
Pathogenic	2021-05-19	criteria provided, single submitter	not provided	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	Identification of two new missense mutations (R156C and S291L) in two ADA- SCID ...	UNIPROT	1284479	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) AND Severe combined immunodeficiency disease	ClinVar	Detail
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for...	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: rs121908735 dbSNP
Genome: hg38
Position: chr20:44,625,581-44,625,581
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 1930
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): 29856
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.0048231511254019E-4

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