chr20:44621034:TCTTC> Detail (hg38) (ADA, PKIG)

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

Genome

Assembly	Position
hg19	chr20:43,249,675-43,249,679
hg38	chr20:44,621,034-44,621,038

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.955_959delGAAGA	NP_000013.2:p.Glu319GlyfsTer3
	NM_001322050.1:c.955_959delGAAGA	NP_001308979.1:p.Glu319GlyfsTer3
	NM_001322051.1:c.955_959delGAAGA	NP_001308980.1:p.Glu319GlyfsTer3
Ensemble	ENST00000372874.9:c.955_959delGAAGA	ENST00000372874.9:p.Glu319GlyfsTer3
	ENST00000536076.2:c.802_806delGAAGA	ENST00000536076.2:p.Glu268GlyfsTer3
	ENST00000537820.2:c.883_887delGAAGA	ENST00000537820.2:p.Glu295GlyfsTer3
	ENST00000695889.1:c.430_434delGAAGA	ENST00000695889.1:p.Glu144GlyfsTer3
	ENST00000695927.1:c.1033_1037delGAAGA	ENST00000695927.1:p.Glu345GlyfsTer3
	ENST00000695949.1:c.880_884delGAAGA	ENST00000695949.1:p.Glu294GlyfsTer3
	ENST00000695991.1:c.493_497delGAAGA	ENST00000695991.1:p.Glu165GlyfsTer3
	ENST00000695993.1:c.955_959delGAAGA	ENST00000695993.1:p.Glu319GlyfsTer3
	ENST00000695995.1:c.565_569delGAAGA	ENST00000695995.1:p.Glu189GlyfsTer3
	ENST00000696017.1:c.952_956delGAAGA	ENST00000696017.1:p.Glu318GlyfsTer3
	ENST00000696058.1:c.952_956delGAAGA	ENST00000696058.1:p.Glu318GlyfsTer3
	ENST00000696060.1:c.1024_1028delGAAGA	ENST00000696060.1:p.Glu342GlyfsTer3
	ENST00000696061.1:c.952_956delGAAGA	ENST00000696061.1:p.Glu318GlyfsTer3
	ENST00000696062.1:c.1018_1022delGAAGA	ENST00000696062.1:p.Glu340GlyfsTer3
	ENST00000696063.1:c.1030_1034delGAAGA	ENST00000696063.1:p.Glu344GlyfsTer3
	ENST00000696064.1:c.802_806delGAAGA	ENST00000696064.1:p.Glu268GlyfsTer3
	ENST00000696065.1:c.277_281delGAAGA	ENST00000696065.1:p.Glu93GlyfsTer3
	ENST00000696076.1:c.1024_1028delGAAGA	ENST00000696076.1:p.Glu342GlyfsTer3
	ENST00000696077.1:c.949_953delGAAGA	ENST00000696077.1:p.Glu317GlyfsTer3
	ENST00000696078.1:c.952_956delGAAGA	ENST00000696078.1:p.Glu318GlyfsTer3
	ENST00000696079.1:c.952_956delGAAGA	ENST00000696079.1:p.Glu318GlyfsTer3
	ENST00000696080.1:c.955_959delGAAGA	ENST00000696080.1:p.Glu319GlyfsTer3
	ENST00000696082.1:c.1030_1034delGAAGA	ENST00000696082.1:p.Glu344GlyfsTer3

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-2899_152-2895delTCTTC

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
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	tgv291922236	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	tgv291922236	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-21	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	2023-08-06	criteria provided, multiple submitters, no conflicts	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

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.956_960del (p.Glu319fs) AND Severe combined immunodeficiency, autosomal recessive...	ClinVar	Detail
NM_000022.4(ADA):c.956_960del (p.Glu319fs) AND not provided	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: rs771266745 dbSNP
Genome: hg38
Position: chr20:44,621,034-44,621,038
Variant Type: snv
Reference Allele: TCTTC
Alternative Allele: -
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): 16
Heterozygous Counts in All Race (ExAC): 16
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.3178269034362338E-4

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