chr11:67258349:AG>GT Detail (hg19) (AIP)

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

Genome

Assembly	Position
hg19	chr11:67,258,349-67,258,350
hg38	chr11:67,490,878-67,490,879 View the variant detail on this assembly version.

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.878_879delinsGT	NP_001289888.1:p.Glu293Gly
	NM_001302960.1:c.878_879delinsGT	NP_001289889.1:p.Glu293Gly
	NM_003977.3:c.878_879delinsGT	NP_003968.3:p.Glu293Gly
Ensemble	ENST00000683237.1:c.18_19delinsGT
	ENST00000684006.1:c.18_19delinsGT
	ENST00000279146.8:c.878_879delinsGT	ENST00000279146.8:p.Glu293Gly
	ENST00000682659.1:c.509_510delinsGT	ENST00000682659.1:p.Glu170Gly
	ENST00000684657.1:c.698_699delinsGT	ENST00000684657.1:p.Glu233Gly
	ENST00000683856.1:c.701_702delinsGT	ENST00000683856.1:p.Glu234Gly
	ENST00000528641.7:c.689_690delinsGT	ENST00000528641.7:p.Glu230Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

AIP

Type	Database	ID	Link
Gene	MIM	605555	OMIM
	HGNC	358	HGNC
	Ensembl	ENSG00000110711	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
0.241	Growth Hormone-Secreting Pituitary Adenoma	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: -
dbSNP: rs267606583 dbSNP
Genome: hg19
Position: chr11:67,258,349-67,258,350
Variant Type: snv
Reference Allele: AG
Alternative Allele: GT

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