chr20:43251683:C>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	chr20:43,251,683-43,251,683
hg38	chr20:44,623,042-44,623,042 View the variant detail on this assembly version.

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.643G>A	NP_000013.2:p.Ala215Thr
	NM_001322050.1:c.643G>A	NP_001308979.1:p.Ala215Thr
	NM_001322051.1:c.643G>A	NP_001308980.1:p.Ala215Thr
Ensemble	ENST00000372874.9:c.643G>A	ENST00000372874.9:p.Ala215Thr
	ENST00000536076.2:c.490G>A	ENST00000536076.2:p.Ala164Thr
	ENST00000537820.2:c.607-112G>A
	ENST00000695889.1:c.219-112G>A
	ENST00000695927.1:c.721G>A	ENST00000695927.1:p.Ala241Thr
	ENST00000695949.1:c.604-112G>A
	ENST00000695991.1:c.217-112G>A
	ENST00000695993.1:c.643G>A	ENST00000695993.1:p.Ala215Thr
	ENST00000695995.1:c.253G>A	ENST00000695995.1:p.Ala85Thr
	ENST00000696017.1:c.640G>A	ENST00000696017.1:p.Ala214Thr
	ENST00000696058.1:c.640G>A	ENST00000696058.1:p.Ala214Thr
	ENST00000696060.1:c.712G>A	ENST00000696060.1:p.Ala238Thr
	ENST00000696061.1:c.640G>A	ENST00000696061.1:p.Ala214Thr
	ENST00000696062.1:c.706G>A	ENST00000696062.1:p.Ala236Thr
	ENST00000696063.1:c.718G>A	ENST00000696063.1:p.Ala240Thr
	ENST00000696064.1:c.490G>A	ENST00000696064.1:p.Ala164Thr
	ENST00000696065.1:c.66-112G>A
	ENST00000696076.1:c.712G>A	ENST00000696076.1:p.Ala238Thr
	ENST00000696077.1:c.637G>A	ENST00000696077.1:p.Ala213Thr
	ENST00000696078.1:c.640G>A	ENST00000696078.1:p.Ala214Thr
	ENST00000696079.1:c.640G>A	ENST00000696079.1:p.Ala214Thr
	ENST00000696080.1:c.643G>A	ENST00000696080.1:p.Ala215Thr
	ENST00000696082.1:c.718G>A	ENST00000696082.1:p.Ala240Thr

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-891C>T

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	Uncertain significance
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	1990-08-01	no assertion criteria provided	Partial adenosine deaminase deficiency	germline	Detail
Uncertain significance	2024-04-04	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
Uncertain significance	2020-12-07	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	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.643G>A (p.Ala215Thr) AND Partial adenosine deaminase deficiency	ClinVar	Detail
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) AND not specified	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: rs114025668 dbSNP
Genome: hg19
Position: chr20:43,251,683-43,251,683
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8646
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): 121220
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): 1.072430292031018E-4

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