chr20:44621082:A>C Detail (hg38) (ADA, PKIG)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr20:43,249,723-43,249,723 View the variant detail on this assembly version.
hg38	chr20:44,621,082-44,621,082

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.911T>G	NP_000013.2:p.Leu304Arg
	NM_001322050.1:c.911T>G	NP_001308979.1:p.Leu304Arg
	NM_001322051.1:c.911T>G	NP_001308980.1:p.Leu304Arg
Ensemble	ENST00000372874.9:c.911T>G	ENST00000372874.9:p.Leu304Arg
	ENST00000536076.2:c.758T>G	ENST00000536076.2:p.Leu253Arg
	ENST00000537820.2:c.839T>G	ENST00000537820.2:p.Leu280Arg
	ENST00000695889.1:c.386T>G	ENST00000695889.1:p.Leu129Arg
	ENST00000695927.1:c.989T>G	ENST00000695927.1:p.Leu330Arg
	ENST00000695949.1:c.836T>G	ENST00000695949.1:p.Leu279Arg
	ENST00000695991.1:c.449T>G	ENST00000695991.1:p.Leu150Arg
	ENST00000695993.1:c.911T>G	ENST00000695993.1:p.Leu304Arg
	ENST00000695995.1:c.521T>G	ENST00000695995.1:p.Leu174Arg
	ENST00000696017.1:c.908T>G	ENST00000696017.1:p.Leu303Arg
	ENST00000696058.1:c.908T>G	ENST00000696058.1:p.Leu303Arg
	ENST00000696060.1:c.980T>G	ENST00000696060.1:p.Leu327Arg
	ENST00000696061.1:c.908T>G	ENST00000696061.1:p.Leu303Arg
	ENST00000696062.1:c.974T>G	ENST00000696062.1:p.Leu325Arg
	ENST00000696063.1:c.986T>G	ENST00000696063.1:p.Leu329Arg
	ENST00000696064.1:c.758T>G	ENST00000696064.1:p.Leu253Arg
	ENST00000696065.1:c.233T>G	ENST00000696065.1:p.Leu78Arg
	ENST00000696076.1:c.980T>G	ENST00000696076.1:p.Leu327Arg
	ENST00000696077.1:c.905T>G	ENST00000696077.1:p.Leu302Arg
	ENST00000696078.1:c.908T>G	ENST00000696078.1:p.Leu303Arg
	ENST00000696079.1:c.908T>G	ENST00000696079.1:p.Leu303Arg
	ENST00000696080.1:c.911T>G	ENST00000696080.1:p.Leu304Arg
	ENST00000696082.1:c.986T>G	ENST00000696082.1:p.Leu329Arg

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-2851A>C

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	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
	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 Likely pathogenic	2024-01-17	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.911T>G (p.Leu304Arg) 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: rs199422327 dbSNP
Genome: hg38
Position: chr20:44,621,082-44,621,082
Variant Type: snv
Reference Allele: A
Alternative Allele: C
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): 121412
Allele Counts in All Race (ExAC): 9
Heterozygous Counts in All Race (ExAC): 9
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.412776331828814E-5

Genome browser