GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 Detail (hg38) (LTBP1, TTC27, BIRC6, LINC00486, MIR558, LOC100271832, MIR4765, BIRC6-AS2, LOC112840924, LOC112840925, LOC122756687, LOC126806184, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC132088840)

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

Information

Genome

Assembly	Position
hg19	chr2:32,677,714-33,257,514 View the variant detail on this assembly version.
hg38	chr2:32,452,646-33,032,447

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

ClinVar

Clinical Significance	Benign Conflicting classifications of pathogenicity
Review star
Show details

Links

Type	Database	ID	Link
Gene	MIM
	HGNC
	Ensembl
	NCBI
	Gene Cards
	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
Conflicting interpretations of pathogenicity	2013-06-25	no assertion criteria provided		paternal not provided maternal	Detail
Benign	2011-08-12	criteria provided, single submitter		paternal	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 AND See cases	ClinVar	Detail
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 AND See cases	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: -
Genome: hg38
Position: chr2:32,452,646-33,032,447
Variant Type: cnv

Genome browser