chr20:44625580:C>T Detail (hg38) (ADA)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr20:43,254,221-43,254,221 View the variant detail on this assembly version.
hg38	chr20:44,625,580-44,625,580

HGVS

ADA

Type	Transcript	Protein
RefSeq	NM_000022.3:c.467G>A	NP_000013.2:p.Arg156His
	NM_001322050.1:c.467G>A	NP_001308979.1:p.Arg156His
	NM_001322051.1:c.467G>A	NP_001308980.1:p.Arg156His
Ensemble	ENST00000372874.9:c.467G>A	ENST00000372874.9:p.Arg156His
	ENST00000536076.2:c.314G>A	ENST00000536076.2:p.Arg105His
	ENST00000537820.2:c.467G>A	ENST00000537820.2:p.Arg156His
	ENST00000695889.1:c.219-2650G>A
	ENST00000695927.1:c.545G>A	ENST00000695927.1:p.Arg182His
	ENST00000695949.1:c.464G>A	ENST00000695949.1:p.Arg155His
	ENST00000695991.1:c.217-2650G>A
	ENST00000695993.1:c.467G>A	ENST00000695993.1:p.Arg156His
	ENST00000695995.1:c.217-2502G>A
	ENST00000696017.1:c.464G>A	ENST00000696017.1:p.Arg155His
	ENST00000696058.1:c.467G>A	ENST00000696058.1:p.Arg156His
	ENST00000696060.1:c.467G>A	ENST00000696060.1:p.Arg156His
	ENST00000696061.1:c.464G>A	ENST00000696061.1:p.Arg155His
	ENST00000696062.1:c.530G>A	ENST00000696062.1:p.Arg177His
	ENST00000696063.1:c.542G>A	ENST00000696063.1:p.Arg181His
	ENST00000696064.1:c.314G>A	ENST00000696064.1:p.Arg105His
	ENST00000696065.1:c.66-2650G>A
	ENST00000696076.1:c.467G>A	ENST00000696076.1:p.Arg156His
	ENST00000696077.1:c.464G>A	ENST00000696077.1:p.Arg155His
	ENST00000696078.1:c.467G>A	ENST00000696078.1:p.Arg156His
	ENST00000696079.1:c.467G>A	ENST00000696079.1:p.Arg156His
	ENST00000696080.1:c.467G>A	ENST00000696080.1:p.Arg156His
	ENST00000696082.1:c.545G>A	ENST00000696082.1:p.Arg182His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	tgv291922387	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1996-07-01	no assertion criteria provided	SCID due to ADA deficiency, delayed onset	unknown	Detail
Pathogenic Likely pathogenic	2024-01-12	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	2019-10-10	criteria provided, single submitter	Severe combined immunodeficiency disease	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	Novel splicing, missense, and deletion mutations in seven adenosine deaminase-de...	UNIPROT	8227344	Detail
0.120	SCID due to ADA deficiency, delayed onset	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.467G>A (p.Arg156His) AND SCID due to ADA deficiency, delayed onset	ClinVar	Detail
NM_000022.4(ADA):c.467G>A (p.Arg156His) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.467G>A (p.Arg156His) AND Severe combined immunodeficiency disease	ClinVar	Detail
NA	DisGeNET	Detail
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients wit...	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: rs121908722 dbSNP
Genome: hg38
Position: chr20:44,625,580-44,625,580
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser