chr20:43249744: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	chr20:43,249,744-43,249,744
hg38	chr20:44,621,103-44,621,103 View the variant detail on this assembly version.

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.890C>T	NP_000013.2:p.Pro297Leu
	NM_001322050.1:c.890C>T	NP_001308979.1:p.Pro297Leu
	NM_001322051.1:c.890C>T	NP_001308980.1:p.Pro297Leu
Ensemble	ENST00000372874.9:c.890C>T	ENST00000372874.9:p.Pro297Leu
	ENST00000536076.2:c.737C>T	ENST00000536076.2:p.Pro246Leu
	ENST00000537820.2:c.818C>T	ENST00000537820.2:p.Pro273Leu
	ENST00000695889.1:c.365C>T	ENST00000695889.1:p.Pro122Leu
	ENST00000695927.1:c.968C>T	ENST00000695927.1:p.Pro323Leu
	ENST00000695949.1:c.815C>T	ENST00000695949.1:p.Pro272Leu
	ENST00000695991.1:c.428C>T	ENST00000695991.1:p.Pro143Leu
	ENST00000695993.1:c.890C>T	ENST00000695993.1:p.Pro297Leu
	ENST00000695995.1:c.500C>T	ENST00000695995.1:p.Pro167Leu
	ENST00000696017.1:c.887C>T	ENST00000696017.1:p.Pro296Leu
	ENST00000696058.1:c.887C>T	ENST00000696058.1:p.Pro296Leu
	ENST00000696060.1:c.959C>T	ENST00000696060.1:p.Pro320Leu
	ENST00000696061.1:c.887C>T	ENST00000696061.1:p.Pro296Leu
	ENST00000696062.1:c.953C>T	ENST00000696062.1:p.Pro318Leu
	ENST00000696063.1:c.965C>T	ENST00000696063.1:p.Pro322Leu
	ENST00000696064.1:c.737C>T	ENST00000696064.1:p.Pro246Leu
	ENST00000696065.1:c.212C>T	ENST00000696065.1:p.Pro71Leu
	ENST00000696076.1:c.959C>T	ENST00000696076.1:p.Pro320Leu
	ENST00000696077.1:c.884C>T	ENST00000696077.1:p.Pro295Leu
	ENST00000696078.1:c.887C>T	ENST00000696078.1:p.Pro296Leu
	ENST00000696079.1:c.887C>T	ENST00000696079.1:p.Pro296Leu
	ENST00000696080.1:c.890C>T	ENST00000696080.1:p.Pro297Leu
	ENST00000696082.1:c.965C>T	ENST00000696082.1:p.Pro322Leu

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-2830G>A

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	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	2024-01-23	reviewed by expert panel	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
0.122	Partial adenosine deaminase deficiency	NA	CLINVAR		Detail
0.324	SCID Due to ADA Deficiency, Early-Onset	NA	CLINVAR		Detail
0.324	SCID Due to ADA Deficiency, Early-Onset	Identification of a point mutation resulting in a heat-labile adenosine deaminas...	UNIPROT	2783588	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.890C>T (p.Pro297Leu) AND Severe combined immunodeficiency, autosomal recessive, T...	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrel...	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: rs121908718 dbSNP
Genome: hg19
Position: chr20:43,249,744-43,249,744
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1555350127108852E-4
Chromosome Counts in All Race (ExAC): 121412
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236418146476461E-6

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