chr12:110218210:ACCGG> Detail (hg38) (IFT81)

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

Genome

Assembly	Position
hg19	chr12:110,656,015-110,656,019
hg38	chr12:110,218,210-110,218,214

HGVS

IFT81

Type	Transcript	Protein
RefSeq	NM_014055.3:c.2015_2019delACCGG	NP_054774.2:p.Asp672AlafsTer15
	NM_001143779.1:c.2015_2019delACCGG	NP_001137251.1:p.Asp672AlafsTer15
Ensemble	ENST00000242591.10:c.2015_2019delACCGG	ENST00000242591.10:p.Asp672AlafsTer15
	ENST00000552912.5:c.2015_2019delACCGG	ENST00000552912.5:p.Asp672AlafsTer15

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

IFT81

Type	Database	ID	Link
Gene	MIM	605489	OMIM
	HGNC	14313	HGNC
	Ensembl	ENSG00000122970	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	2015-10-01	no assertion criteria provided	ciliopathy	germline	Detail
Uncertain significance	2023-12-03	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs) AND Ciliopathy	ClinVar	Detail
NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs) AND not provided	ClinVar	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: rs864309658 dbSNP
Genome: hg38
Position: chr12:110,218,210-110,218,214
Variant Type: snv
Reference Allele: ACCGG
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8540
East Asian Allele Counts (ExAC): 6
East Asian Heterozygous Counts (ExAC): 6
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 7.02576112412178E-4
Chromosome Counts in All Race (ExAC): 112910
Allele Counts in All Race (ExAC): 12
Heterozygous Counts in All Race (ExAC): 12
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.0627933752546276E-4

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