chr20:44626498:A>G Detail (hg38) (ADA)

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

Information

Genome

Assembly	Position
hg19	chr20:43,255,139-43,255,139 View the variant detail on this assembly version.
hg38	chr20:44,626,498-44,626,498

HGVS

ADA

Type	Transcript	Protein
RefSeq	NM_000022.3:c.320T>C	NP_000013.2:p.Leu107Pro
	NM_001322050.1:c.320T>C	NP_001308979.1:p.Leu107Pro
	NM_001322051.1:c.320T>C	NP_001308980.1:p.Leu107Pro
Ensemble	ENST00000372874.9:c.320T>C	ENST00000372874.9:p.Leu107Pro
	ENST00000536076.2:c.167T>C	ENST00000536076.2:p.Leu56Pro
	ENST00000537820.2:c.320T>C	ENST00000537820.2:p.Leu107Pro
	ENST00000695889.1:c.218+2549T>C
	ENST00000695927.1:c.398T>C	ENST00000695927.1:p.Leu133Pro
	ENST00000695949.1:c.317T>C	ENST00000695949.1:p.Leu106Pro
	ENST00000695991.1:c.216+2551T>C
	ENST00000695993.1:c.320T>C	ENST00000695993.1:p.Leu107Pro
	ENST00000695995.1:c.216+2551T>C
	ENST00000696017.1:c.317T>C	ENST00000696017.1:p.Leu106Pro
	ENST00000696058.1:c.320T>C	ENST00000696058.1:p.Leu107Pro
	ENST00000696060.1:c.320T>C	ENST00000696060.1:p.Leu107Pro
	ENST00000696061.1:c.317T>C	ENST00000696061.1:p.Leu106Pro
	ENST00000696062.1:c.383T>C	ENST00000696062.1:p.Leu128Pro
	ENST00000696063.1:c.395T>C	ENST00000696063.1:p.Leu132Pro
	ENST00000696064.1:c.167T>C	ENST00000696064.1:p.Leu56Pro
	ENST00000696065.1:c.65+2549T>C
	ENST00000696076.1:c.320T>C	ENST00000696076.1:p.Leu107Pro
	ENST00000696077.1:c.317T>C	ENST00000696077.1:p.Leu106Pro
	ENST00000696078.1:c.320T>C	ENST00000696078.1:p.Leu107Pro
	ENST00000696079.1:c.320T>C	ENST00000696079.1:p.Leu107Pro
	ENST00000696080.1:c.320T>C	ENST00000696080.1:p.Leu107Pro
	ENST00000696082.1:c.398T>C	ENST00000696082.1:p.Leu133Pro

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

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	2024-01-16	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
Pathogenic	2022-12-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2019-09-16	criteria provided, single submitter	Severe combined immunodeficiency disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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.320T>C (p.Leu107Pro) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) AND not provided	ClinVar	Detail
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) AND Severe combined immunodeficiency disease	ClinVar	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: rs121908739 dbSNP
Genome: hg38
Position: chr20:44,626,498-44,626,498
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8652
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): 121384
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): 7.414486258485467E-5

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