chr20:43255158:G>A Detail (hg19) (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	chr20:43,255,158-43,255,158
hg38	chr20:44,626,517-44,626,517 View the variant detail on this assembly version.

HGVS

ADA

Type	Transcript	Protein
RefSeq	NM_000022.3:c.301C>T	NP_000013.2:p.Arg101Trp
	NM_001322050.1:c.301C>T	NP_001308979.1:p.Arg101Trp
	NM_001322051.1:c.301C>T	NP_001308980.1:p.Arg101Trp
Ensemble	ENST00000372874.9:c.301C>T	ENST00000372874.9:p.Arg101Trp
	ENST00000536076.2:c.148C>T	ENST00000536076.2:p.Arg50Trp
	ENST00000537820.2:c.301C>T	ENST00000537820.2:p.Arg101Trp
	ENST00000695889.1:c.218+2530C>T
	ENST00000695927.1:c.379C>T	ENST00000695927.1:p.Arg127Trp
	ENST00000695949.1:c.298C>T	ENST00000695949.1:p.Arg100Trp
	ENST00000695991.1:c.216+2532C>T
	ENST00000695993.1:c.301C>T	ENST00000695993.1:p.Arg101Trp
	ENST00000695995.1:c.216+2532C>T
	ENST00000696017.1:c.298C>T	ENST00000696017.1:p.Arg100Trp
	ENST00000696058.1:c.301C>T	ENST00000696058.1:p.Arg101Trp
	ENST00000696060.1:c.301C>T	ENST00000696060.1:p.Arg101Trp
	ENST00000696061.1:c.298C>T	ENST00000696061.1:p.Arg100Trp
	ENST00000696062.1:c.364C>T	ENST00000696062.1:p.Arg122Trp
	ENST00000696063.1:c.376C>T	ENST00000696063.1:p.Arg126Trp
	ENST00000696064.1:c.148C>T	ENST00000696064.1:p.Arg50Trp
	ENST00000696065.1:c.65+2530C>T
	ENST00000696076.1:c.301C>T	ENST00000696076.1:p.Arg101Trp
	ENST00000696077.1:c.298C>T	ENST00000696077.1:p.Arg100Trp
	ENST00000696078.1:c.301C>T	ENST00000696078.1:p.Arg101Trp
	ENST00000696079.1:c.301C>T	ENST00000696079.1:p.Arg101Trp
	ENST00000696080.1:c.301C>T	ENST00000696080.1:p.Arg101Trp
	ENST00000696082.1:c.379C>T	ENST00000696082.1:p.Arg127Trp

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-01-28	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

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.324	SCID Due to ADA Deficiency, Early-Onset	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	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: rs121908717 dbSNP
Genome: hg19
Position: chr20:43,255,158-43,255,158
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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