chr20:43248492:CTCGTTGGTTC> 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	chr20:43,248,492-43,248,502
hg38	chr20:44,619,851-44,619,861

HGVS

ADA
PKIG

Type	Transcript	Protein
RefSeq	NM_000022.3:c.1079-14_1079-4delGAACCAACGAG
	NM_001322050.1:c.1079-14_1079-4delGAACCAACGAG
	NM_001322051.1:c.1079-14_1079-4delGAACCAACGAG
Ensemble	ENST00000372874.9:c.1079-14_1079-4delGAACCAACGAG
	ENST00000536076.2:c.926-14_926-4delGAACCAACGAG
	ENST00000537820.2:c.1007-14_1007-4delGAACCAACGAG
	ENST00000695889.1:c.554-14_554-4delGAACCAACGAG
	ENST00000695927.1:c.1157-14_1157-4delGAACCAACGAG
	ENST00000695949.1:c.1004-14_1004-4delGAACCAACGAG
	ENST00000695991.1:c.617-14_617-4delGAACCAACGAG
	ENST00000695993.1:c.1163_*9delGAACCAACGAG	ENST00000695993.1:p.Ter388SerfsTer6
	ENST00000695995.1:c.689-14_689-4delGAACCAACGAG
	ENST00000696017.1:c.269_259delGAACCAACGAG
	ENST00000696058.1:c.1160_*9delGAACCAACGAG	ENST00000696058.1:p.Ter387SerfsTer6
	ENST00000696060.1:c.1148-14_1148-4delGAACCAACGAG
	ENST00000696061.1:c.1076-14_1076-4delGAACCAACGAG
	ENST00000696062.1:c.1142-14_1142-4delGAACCAACGAG
	ENST00000696063.1:c.1154-14_1154-4delGAACCAACGAG
	ENST00000696064.1:c.926-14_926-4delGAACCAACGAG
	ENST00000696065.1:c.401-14_401-4delGAACCAACGAG
	ENST00000696076.1:c.269_259delGAACCAACGAG
	ENST00000696077.1:c.1073-14_1073-4delGAACCAACGAG
	ENST00000696078.1:c.1076-14_1076-4delGAACCAACGAG
	ENST00000696079.1:c.1076-19_1076-9delGAACCAACGAG
	ENST00000696080.1:c.1079-19_1079-9delGAACCAACGAG
	ENST00000696082.1:c.1154-14_1154-4delGAACCAACGAG

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000372887.5:c.152-4082_152-4072delCTCGTTGGTTC

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	no classification for the single variant
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
Pathogenic	2002-02-01	no assertion criteria provided	SCID due to ADA deficiency, delayed onset	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000022.4(ADA):c.[1079-14_1079-4del;1079-15T>A] AND SCID due to ADA deficiency, delayed onset	ClinVar	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: rs2123505581 dbSNP
Genome: hg19
Position: chr20:43,248,492-43,248,502
Variant Type: snv
Reference Allele: CTCGTTGGTTC
Alternative Allele: -

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