chr20:43249744:G>T Detail (hg19) (ADA, PKIG)

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

Information

Genome

Assembly	Position
hg19	chr20:43,249,744-43,249,744
hg38	chr20:44,621,103-44,621,103 View the variant detail on this assembly version.

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.890C>A	NP_000013.2:p.Pro297Gln
	NM_001322050.1:c.890C>A	NP_001308979.1:p.Pro297Gln
	NM_001322051.1:c.890C>A	NP_001308980.1:p.Pro297Gln
Ensemble	ENST00000372874.9:c.890C>A	ENST00000372874.9:p.Pro297Gln
	ENST00000536076.2:c.737C>A	ENST00000536076.2:p.Pro246Gln
	ENST00000537820.2:c.818C>A	ENST00000537820.2:p.Pro273Gln
	ENST00000695889.1:c.365C>A	ENST00000695889.1:p.Pro122Gln
	ENST00000695927.1:c.968C>A	ENST00000695927.1:p.Pro323Gln
	ENST00000695949.1:c.815C>A	ENST00000695949.1:p.Pro272Gln
	ENST00000695991.1:c.428C>A	ENST00000695991.1:p.Pro143Gln
	ENST00000695993.1:c.890C>A	ENST00000695993.1:p.Pro297Gln
	ENST00000695995.1:c.500C>A	ENST00000695995.1:p.Pro167Gln
	ENST00000696017.1:c.887C>A	ENST00000696017.1:p.Pro296Gln
	ENST00000696058.1:c.887C>A	ENST00000696058.1:p.Pro296Gln
	ENST00000696060.1:c.959C>A	ENST00000696060.1:p.Pro320Gln
	ENST00000696061.1:c.887C>A	ENST00000696061.1:p.Pro296Gln
	ENST00000696062.1:c.953C>A	ENST00000696062.1:p.Pro318Gln
	ENST00000696063.1:c.965C>A	ENST00000696063.1:p.Pro322Gln
	ENST00000696064.1:c.737C>A	ENST00000696064.1:p.Pro246Gln
	ENST00000696065.1:c.212C>A	ENST00000696065.1:p.Pro71Gln
	ENST00000696076.1:c.959C>A	ENST00000696076.1:p.Pro320Gln
	ENST00000696077.1:c.884C>A	ENST00000696077.1:p.Pro295Gln
	ENST00000696078.1:c.887C>A	ENST00000696078.1:p.Pro296Gln
	ENST00000696079.1:c.887C>A	ENST00000696079.1:p.Pro296Gln
	ENST00000696080.1:c.890C>A	ENST00000696080.1:p.Pro297Gln
	ENST00000696082.1:c.965C>A	ENST00000696082.1:p.Pro322Gln

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-2830G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
	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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1989-02-01	no assertion criteria provided	Partial adenosine deaminase deficiency	germline	Detail
Pathogenic Likely pathogenic	2024-01-26	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
Conflicting interpretations of pathogenicity	2023-05-09	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2022-10-12	criteria provided, single submitter	not specified	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	NA	CLINVAR		Detail
0.324	SCID Due to ADA Deficiency, Early-Onset	Identification of a point mutation resulting in a heat-labile adenosine deaminas...	UNIPROT	2783588	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) AND Partial adenosine deaminase deficiency	ClinVar	Detail
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) AND not provided	ClinVar	Detail
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrel...	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: rs121908718 dbSNP
Genome: hg19
Position: chr20:43,249,744-43,249,744
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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