chr8:23007710:C>T Detail (hg38) (RHOBTB2)

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

Genome

Assembly	Position
hg19	chr8:22,865,223-22,865,223 View the variant detail on this assembly version.
hg38	chr8:23,007,710-23,007,710

HGVS

RHOBTB2

Type	Transcript	Protein
RefSeq	NM_015178.2:c.1465C>T	NP_055993.2:p.Arg489Trp
	NM_001160036.1:c.1531C>T	NP_001153508.1:p.Arg511Trp
	NM_001160037.1:c.1486C>T	NP_001153509.1:p.Arg496Trp
Ensemble	ENST00000251822.7:c.1465C>T	ENST00000251822.7:p.Arg489Trp
	ENST00000519685.5:c.1531C>T	ENST00000519685.5:p.Arg511Trp
	ENST00000522948.5:c.1486C>T	ENST00000522948.5:p.Arg496Trp
	ENST00000692529.1:c.1492C>T	ENST00000692529.1:p.Arg498Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

RHOBTB2

Type	Database	ID	Link
Gene	MIM	607352	OMIM
	HGNC	18756	HGNC
	Ensembl	ENSG00000008853	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv354941683	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2018-01-01	criteria provided, single submitter	Rett syndrome	de novo	Detail
Conflicting interpretations of pathogenicity	2024-03-25	criteria provided, conflicting interpretations	Developmental and epileptic encephalopathy, 64	de novo germline unknown	Detail
Pathogenic	2023-10-05	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-03-28	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) AND Rett syndrome	ClinVar	Detail
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) AND Developmental and epileptic encephalopathy, 64	ClinVar	Detail
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) AND not provided	ClinVar	Detail
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) AND Inborn genetic diseases	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: rs1554504681 dbSNP
Genome: hg38
Position: chr8:23,007,710-23,007,710
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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