chr20:43255157:C>G Detail (hg19) (ADA)

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

Information

Genome

Assembly	Position
hg19	chr20:43,255,157-43,255,157
hg38	chr20:44,626,516-44,626,516 View the variant detail on this assembly version.

HGVS

ADA

Type	Transcript	Protein
RefSeq	NM_000022.3:c.302G>C	NP_000013.2:p.Arg101Pro
	NM_001322050.1:c.302G>C	NP_001308979.1:p.Arg101Pro
	NM_001322051.1:c.302G>C	NP_001308980.1:p.Arg101Pro
Ensemble	ENST00000372874.9:c.302G>C	ENST00000372874.9:p.Arg101Pro
	ENST00000536076.2:c.149G>C	ENST00000536076.2:p.Arg50Pro
	ENST00000537820.2:c.302G>C	ENST00000537820.2:p.Arg101Pro
	ENST00000695889.1:c.218+2531G>C
	ENST00000695927.1:c.380G>C	ENST00000695927.1:p.Arg127Pro
	ENST00000695949.1:c.299G>C	ENST00000695949.1:p.Arg100Pro
	ENST00000695991.1:c.216+2533G>C
	ENST00000695993.1:c.302G>C	ENST00000695993.1:p.Arg101Pro
	ENST00000695995.1:c.216+2533G>C
	ENST00000696017.1:c.299G>C	ENST00000696017.1:p.Arg100Pro
	ENST00000696058.1:c.302G>C	ENST00000696058.1:p.Arg101Pro
	ENST00000696060.1:c.302G>C	ENST00000696060.1:p.Arg101Pro
	ENST00000696061.1:c.299G>C	ENST00000696061.1:p.Arg100Pro
	ENST00000696062.1:c.365G>C	ENST00000696062.1:p.Arg122Pro
	ENST00000696063.1:c.377G>C	ENST00000696063.1:p.Arg126Pro
	ENST00000696064.1:c.149G>C	ENST00000696064.1:p.Arg50Pro
	ENST00000696065.1:c.65+2531G>C
	ENST00000696076.1:c.302G>C	ENST00000696076.1:p.Arg101Pro
	ENST00000696077.1:c.299G>C	ENST00000696077.1:p.Arg100Pro
	ENST00000696078.1:c.302G>C	ENST00000696078.1:p.Arg101Pro
	ENST00000696079.1:c.302G>C	ENST00000696079.1:p.Arg101Pro
	ENST00000696080.1:c.302G>C	ENST00000696080.1:p.Arg101Pro
	ENST00000696082.1:c.380G>C	ENST00000696082.1:p.Arg127Pro

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
Review star	[No Data.]
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

[No Data.]

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
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: -
Genome: hg19
Position: chr20:43,255,157-43,255,157
Variant Type: snv
Reference Allele: C
Alternative Allele: G
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): 121396
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): 8.237503706876667E-6

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