chr20:43249762:G>A 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	chr20:43,249,762-43,249,762
hg38	chr20:44,621,121-44,621,121 View the variant detail on this assembly version.

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.872C>T	NP_000013.2:p.Ser291Leu
	NM_001322050.1:c.872C>T	NP_001308979.1:p.Ser291Leu
	NM_001322051.1:c.872C>T	NP_001308980.1:p.Ser291Leu
Ensemble	ENST00000372874.9:c.872C>T	ENST00000372874.9:p.Ser291Leu
	ENST00000536076.2:c.719C>T	ENST00000536076.2:p.Ser240Leu
	ENST00000537820.2:c.800C>T	ENST00000537820.2:p.Ser267Leu
	ENST00000695889.1:c.347C>T	ENST00000695889.1:p.Ser116Leu
	ENST00000695927.1:c.950C>T	ENST00000695927.1:p.Ser317Leu
	ENST00000695949.1:c.797C>T	ENST00000695949.1:p.Ser266Leu
	ENST00000695991.1:c.410C>T	ENST00000695991.1:p.Ser137Leu
	ENST00000695993.1:c.872C>T	ENST00000695993.1:p.Ser291Leu
	ENST00000695995.1:c.482C>T	ENST00000695995.1:p.Ser161Leu
	ENST00000696017.1:c.869C>T	ENST00000696017.1:p.Ser290Leu
	ENST00000696058.1:c.869C>T	ENST00000696058.1:p.Ser290Leu
	ENST00000696060.1:c.941C>T	ENST00000696060.1:p.Ser314Leu
	ENST00000696061.1:c.869C>T	ENST00000696061.1:p.Ser290Leu
	ENST00000696062.1:c.935C>T	ENST00000696062.1:p.Ser312Leu
	ENST00000696063.1:c.947C>T	ENST00000696063.1:p.Ser316Leu
	ENST00000696064.1:c.719C>T	ENST00000696064.1:p.Ser240Leu
	ENST00000696065.1:c.194C>T	ENST00000696065.1:p.Ser65Leu
	ENST00000696076.1:c.941C>T	ENST00000696076.1:p.Ser314Leu
	ENST00000696077.1:c.866C>T	ENST00000696077.1:p.Ser289Leu
	ENST00000696078.1:c.869C>T	ENST00000696078.1:p.Ser290Leu
	ENST00000696079.1:c.869C>T	ENST00000696079.1:p.Ser290Leu
	ENST00000696080.1:c.872C>T	ENST00000696080.1:p.Ser291Leu
	ENST00000696082.1:c.947C>T	ENST00000696082.1:p.Ser316Leu

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-2812G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:<0.001
	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
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	tgv63825455	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	tgv63825455	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-11-15	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
Likely pathogenic	2018-06-06	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	Novel splicing, missense, and deletion mutations in seven adenosine deaminase-de...	UNIPROT	8227344	Detail
0.152	severe combined immunodeficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) AND not provided	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: rs121908721 dbSNP
Genome: hg19
Position: chr20:43,249,762-43,249,762
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Filtering Status (HGVD): PASS
# of samples (HGVD): 1210
Mean of sample read depth (HGVD): 182.04
Standard deviation of sample read depth (HGVD): 75.64
Number of reference allele (HGVD): 2419
Number of alternative allele (HGVD): 1
Allele Frequency (HGVD): 4.1322314049586776E-4
Gene Symbol (HGVD): ADA
East Asian Chromosome Counts (ExAC): 8654
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): 121406
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.294730079238259E-5

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