chr11:67254618:C>T Detail (hg19) (AIP, LOC130006206)

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

Genome

Assembly	Position
hg19	chr11:67,254,618-67,254,618
hg38	chr11:67,487,147-67,487,147 View the variant detail on this assembly version.

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.241C>T	NP_001289888.1:p.Arg81Ter
	NM_001302960.1:c.241C>T	NP_001289889.1:p.Arg81Ter
	NM_003977.3:c.241C>T	NP_003968.3:p.Arg81Ter
Ensemble	ENST00000528641.7:c.241C>T	ENST00000528641.7:p.Arg81Ter
	ENST00000683856.1:c.64C>T	ENST00000683856.1:p.Arg22Ter
	ENST00000682659.1:c.100-2891C>T
	ENST00000684657.1:c.100-2120C>T
	ENST00000684006.1:c.241C>T	ENST00000684006.1:p.Arg81Ter
	ENST00000279146.8:c.241C>T	ENST00000279146.8:p.Arg81Ter
	ENST00000683237.1:c.241C>T	ENST00000683237.1:p.Arg81Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
not provided		no assertion provided	Somatotroph adenoma	unknown	Detail
Pathogenic	2023-10-22	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	Growth Hormone-Secreting Pituitary Adenoma	NA	CLINVAR		Detail
0.005	PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)	Genetic analysis in a patient presenting with meningioma and familial isolated p...	BeFree	22527616	Detail
0.018	Pituitary Neoplasms	Genetic analysis in a patient presenting with meningioma and familial isolated p...	BeFree	22527616	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) AND Somatotroph adenoma	ClinVar	Detail
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FI...	DisGeNET	Detail
Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FI...	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: rs267606541 dbSNP
Genome: hg19
Position: chr11:67,254,618-67,254,618
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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