chr11:67490910:C>T Detail (hg38) (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	chr11:67,258,381-67,258,381 View the variant detail on this assembly version.
hg38	chr11:67,490,910-67,490,910

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.910C>T	NP_001289888.1:p.Arg304Ter
	NM_001302960.1:c.910C>T	NP_001289889.1:p.Arg304Ter
	NM_003977.3:c.910C>T	NP_003968.3:p.Arg304Ter
Ensemble	ENST00000279146.8:c.910C>T	ENST00000279146.8:p.Arg304Ter
	ENST00000528641.7:c.721C>T	ENST00000528641.7:p.Arg241Ter
	ENST00000682659.1:c.541C>T	ENST00000682659.1:p.Arg181Ter
	ENST00000683237.1:c.*50C>T
	ENST00000683856.1:c.733C>T	ENST00000683856.1:p.Arg245Ter
	ENST00000684006.1:c.*50C>T
	ENST00000684657.1:c.730C>T	ENST00000684657.1:p.Arg244Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	tgv42989575	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-10-19	criteria provided, single submitter	Somatotroph adenoma	germline unknown	Detail
Pathogenic	2022-12-01	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-10-04	criteria provided, multiple submitters, no conflicts	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
0.013	pituitary adenoma	The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in ...	BeFree	20354355	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) AND Somatotroph adenoma	ClinVar	Detail
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pi...	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: rs104894195 dbSNP
Genome: hg38
Position: chr11:67,490,910-67,490,910
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8500
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 116612
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.7150893561554556E-5

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