chr11:67257583:T> Detail (hg19) (AIP)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:67,257,583-67,257,583
hg38	chr11:67,490,112-67,490,112

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.543delT	NP_001289888.1:p.Ile182SerfsTer14
	NM_001302960.1:c.543delT	NP_001289889.1:p.Ile182SerfsTer14
	NM_003977.3:c.543delT	NP_003968.3:p.Ile182SerfsTer14
Ensemble	ENST00000683237.1:c.543delT	ENST00000683237.1:p.Ile182SerfsTer14
	ENST00000279146.8:c.543delT	ENST00000279146.8:p.Ile182SerfsTer14
	ENST00000684006.1:c.543delT	ENST00000684006.1:p.Ile182SerfsTer14
	ENST00000684657.1:c.363delT	ENST00000684657.1:p.Ile122SerfsTer14
	ENST00000682659.1:c.174delT	ENST00000682659.1:p.Ile59SerfsTer14
	ENST00000683856.1:c.366delT	ENST00000683856.1:p.Ile123SerfsTer14
	ENST00000528641.7:c.354delT	ENST00000528641.7:p.Ile119SerfsTer14

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-03-06	no assertion criteria provided	Somatotroph adenoma	germline unknown	Detail

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
NM_003977.4(AIP):c.543del (p.Ile182fs) AND Somatotroph adenoma	ClinVar	Detail
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: rs267606559 dbSNP
Genome: hg19
Position: chr11:67,257,583-67,257,583
Variant Type: snv
Reference Allele: T
Alternative Allele: -

Genome browser