chr11:67254543: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	chr11:67,254,543-67,254,543
hg38	chr11:67,487,072-67,487,072 View the variant detail on this assembly version.

HGVS

AIP

Type	Transcript	Protein
RefSeq	NM_001302959.1:c.166C>T	NP_001289888.1:p.Arg56Cys
	NM_001302960.1:c.166C>T	NP_001289889.1:p.Arg56Cys
	NM_003977.3:c.166C>T	NP_003968.3:p.Arg56Cys
Ensemble	ENST00000279146.8:c.166C>T	ENST00000279146.8:p.Arg56Cys
	ENST00000684006.1:c.166C>T	ENST00000684006.1:p.Arg56Cys
	ENST00000683237.1:c.166C>T	ENST00000683237.1:p.Arg56Cys
	ENST00000683856.1:c.-12C>T
	ENST00000528641.7:c.166C>T	ENST00000528641.7:p.Arg56Cys
	ENST00000684657.1:c.100-2195C>T
	ENST00000682659.1:c.100-2966C>T

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	Uncertain significance
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
Uncertain significance	2017-04-27	criteria provided, single submitter	Somatotroph adenoma	germline	Detail
Uncertain significance	2023-12-22	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2023-03-14	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	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.166C>T (p.Arg56Cys) AND Somatotroph adenoma	ClinVar	Detail
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) AND not provided	ClinVar	Detail
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) AND Hereditary cancer-predisposing syndrome	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: rs267606538 dbSNP
Genome: hg19
Position: chr11:67,254,543-67,254,543
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8642
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): 121126
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): 1.651173158529135E-5

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