chr20:44621121:G>C Detail (hg38) (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 View the variant detail on this assembly version.
hg38	chr20:44,621,121-44,621,121

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.872C>G	NP_000013.2:p.Ser291Trp
	NM_001322050.1:c.872C>G	NP_001308979.1:p.Ser291Trp
	NM_001322051.1:c.872C>G	NP_001308980.1:p.Ser291Trp
Ensemble	ENST00000372874.9:c.872C>G	ENST00000372874.9:p.Ser291Trp
	ENST00000536076.2:c.719C>G	ENST00000536076.2:p.Ser240Trp
	ENST00000537820.2:c.800C>G	ENST00000537820.2:p.Ser267Trp
	ENST00000695889.1:c.347C>G	ENST00000695889.1:p.Ser116Trp
	ENST00000695927.1:c.950C>G	ENST00000695927.1:p.Ser317Trp
	ENST00000695949.1:c.797C>G	ENST00000695949.1:p.Ser266Trp
	ENST00000695991.1:c.410C>G	ENST00000695991.1:p.Ser137Trp
	ENST00000695993.1:c.872C>G	ENST00000695993.1:p.Ser291Trp
	ENST00000695995.1:c.482C>G	ENST00000695995.1:p.Ser161Trp
	ENST00000696017.1:c.869C>G	ENST00000696017.1:p.Ser290Trp
	ENST00000696058.1:c.869C>G	ENST00000696058.1:p.Ser290Trp
	ENST00000696060.1:c.941C>G	ENST00000696060.1:p.Ser314Trp
	ENST00000696061.1:c.869C>G	ENST00000696061.1:p.Ser290Trp
	ENST00000696062.1:c.935C>G	ENST00000696062.1:p.Ser312Trp
	ENST00000696063.1:c.947C>G	ENST00000696063.1:p.Ser316Trp
	ENST00000696064.1:c.719C>G	ENST00000696064.1:p.Ser240Trp
	ENST00000696065.1:c.194C>G	ENST00000696065.1:p.Ser65Trp
	ENST00000696076.1:c.941C>G	ENST00000696076.1:p.Ser314Trp
	ENST00000696077.1:c.866C>G	ENST00000696077.1:p.Ser289Trp
	ENST00000696078.1:c.869C>G	ENST00000696078.1:p.Ser290Trp
	ENST00000696079.1:c.869C>G	ENST00000696079.1:p.Ser290Trp
	ENST00000696080.1:c.872C>G	ENST00000696080.1:p.Ser291Trp
	ENST00000696082.1:c.947C>G	ENST00000696082.1:p.Ser316Trp

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

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Likely pathogenic	2011-08-18	criteria provided, single submitter	Severe combined immunodeficiency disease	germline	Detail
Likely pathogenic	2022-06-08	criteria provided, single submitter	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	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>G (p.Ser291Trp) AND Severe combined immunodeficiency disease	ClinVar	Detail
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) AND Severe combined immunodeficiency, autosomal recessive, T...	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: hg38
Position: chr20:44,621,121-44,621,121
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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