chr5:68295249:G>A Detail (hg38) (PIK3R1)

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

Genome

Assembly	Position
hg19	chr5:67,591,077-67,591,077 View the variant detail on this assembly version.
hg38	chr5:68,295,249-68,295,249

HGVS

PIK3R1

Type	Transcript	Protein
RefSeq	NM_181524.1:c.770G>A	NP_852665.1:p.Arg257Gln
	NM_181504.3:c.860G>A	NP_852556.2:p.Arg287Gln
	NM_181523.2:c.1670G>A	NP_852664.1:p.Arg557Gln
	NM_001242466.1:c.581G>A	NP_001229395.1:p.Arg194Gln
Ensemble	ENST00000320694.13:c.770G>A	ENST00000320694.13:p.Arg257Gln
	ENST00000336483.10:c.860G>A	ENST00000336483.10:p.Arg287Gln
	ENST00000517643.2:c.1670G>A	ENST00000517643.2:p.Arg557Gln
	ENST00000521381.6:c.1670G>A	ENST00000521381.6:p.Arg557Gln
	ENST00000521657.6:c.1670G>A	ENST00000521657.6:p.Arg557Gln
	ENST00000522084.6:c.860G>A	ENST00000522084.6:p.Arg287Gln
	ENST00000523872.1:c.581G>A	ENST00000523872.1:p.Arg194Gln
	ENST00000697457.1:c.1595G>A	ENST00000697457.1:p.Arg532Gln
	ENST00000697458.1:c.1670G>A	ENST00000697458.1:p.Arg557Gln
	ENST00000697460.1:c.1145G>A	ENST00000697460.1:p.Arg382Gln
	ENST00000697461.1:c.1670G>A	ENST00000697461.1:p.Arg557Gln
	ENST00000697462.1:c.860G>A	ENST00000697462.1:p.Arg287Gln
	ENST00000697465.1:c.707G>A	ENST00000697465.1:p.Arg236Gln
	ENST00000697466.1:c.677G>A	ENST00000697466.1:p.Arg226Gln
	ENST00000697467.1:c.581G>A	ENST00000697467.1:p.Arg194Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

PIK3R1

Type	Database	ID	Link
Gene	MIM	171833	OMIM
	HGNC	8979	HGNC
	Ensembl	ENSG00000145675	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv257341421	TogoVar
	COSMIC	COSM3071956	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-01-14	criteria provided, multiple submitters, no conflicts	Agammaglobulinemia 7, autosomal recessive,SHORT syndrome,immunodeficiency 36	germline inherited	Detail
Uncertain significance	2022-01-14	criteria provided, multiple submitters, no conflicts	Agammaglobulinemia 7, autosomal recessive,SHORT syndrome,immunodeficiency 36	germline inherited	Detail
Uncertain significance	2022-01-14	criteria provided, multiple submitters, no conflicts	Agammaglobulinemia 7, autosomal recessive,SHORT syndrome,immunodeficiency 36	germline inherited	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) AND multiple conditions	ClinVar	Detail
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) AND multiple conditions	ClinVar	Detail
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) AND multiple conditions	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: rs2112275807 dbSNP
Genome: hg38
Position: chr5:68,295,249-68,295,249
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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