chr1:1737948:T>C Detail (hg19) (GNB1)

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

Genome

Assembly	Position
hg19	chr1:1,737,948-1,737,948
hg38	chr1:1,806,509-1,806,509 View the variant detail on this assembly version.

HGVS

GNB1

Type	Transcript	Protein
RefSeq	NM_001282539.1:c.233A>G	NP_001269468.1:p.Lys78Arg
	NM_001282538.1:c.-68A>G
	NM_002074.4:c.233A>G	NP_002065.1:p.Lys78Arg
Ensemble	ENST00000703696.1:c.233A>G	ENST00000703696.1:p.Lys78Arg
	ENST00000703705.1:c.101A>G	ENST00000703705.1:p.Lys34Arg
	ENST00000703704.1:c.233A>G	ENST00000703704.1:p.Lys78Arg
	ENST00000703692.1:c.233A>G	ENST00000703692.1:p.Lys78Arg
	ENST00000703708.1:c.233A>G	ENST00000703708.1:p.Lys78Arg
	ENST00000703693.1:c.233A>G	ENST00000703693.1:p.Lys78Arg
	ENST00000703702.1:c.233A>G	ENST00000703702.1:p.Lys78Arg
	ENST00000703703.1:c.233A>G	ENST00000703703.1:p.Lys78Arg
	ENST00000703699.1:c.233A>G	ENST00000703699.1:p.Lys78Arg
	ENST00000703701.1:c.233A>G	ENST00000703701.1:p.Lys78Arg
	ENST00000610897.4:c.233A>G	ENST00000610897.4:p.Lys78Arg
	ENST00000703706.1:c.233A>G	ENST00000703706.1:p.Lys78Arg
	ENST00000703694.1:c.233A>G	ENST00000703694.1:p.Lys78Arg
	ENST00000703697.1:c.233A>G	ENST00000703697.1:p.Lys78Arg
	ENST00000703709.1:c.233A>G	ENST00000703709.1:p.Lys78Arg
	ENST00000703711.1:c.233A>G	ENST00000703711.1:p.Lys78Arg
	ENST00000615252.5:c.-68A>G
	ENST00000703710.1:c.233A>G	ENST00000703710.1:p.Lys78Arg
	ENST00000378609.9:c.233A>G	ENST00000378609.9:p.Lys78Arg
	ENST00000703707.1:c.194A>G	ENST00000703707.1:p.Lys65Arg
	ENST00000703700.1:c.233A>G	ENST00000703700.1:p.Lys78Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

GNB1

Type	Database	ID	Link
Gene	MIM	139380	OMIM
	HGNC	4396	HGNC
	Ensembl	ENSG00000078369	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
Pathogenic	2016-02-10	no assertion criteria provided	Global developmental delay,Growth delay	de novo	Detail
Pathogenic	2016-02-10	no assertion criteria provided	Global developmental delay,Growth delay	de novo	Detail
Pathogenic	2024-03-28	criteria provided, multiple submitters, no conflicts	Intellectual disability, autosomal dominant 42	de novo germline unknown	Detail
Pathogenic Likely pathogenic	2023-07-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2016-05-05	no assertion criteria provided	Neurodevelopmental Disability	unknown	Detail
not provided		no assertion provided	GNB1-related disorder	unknown	Detail
Likely pathogenic	2018-06-13	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2022-10-04	criteria provided, single submitter	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	de novo	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND multiple conditions	ClinVar	Detail
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND multiple conditions	ClinVar	Detail
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND Intellectual disability, autosomal dominant 42	ClinVar	Detail
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND not provided	ClinVar	Detail
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND multiple conditions	ClinVar	Detail
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND GNB1-related disorder	ClinVar	Detail
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND Inborn genetic diseases	ClinVar	Detail
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) AND Global developmental delay-neuro-ophthalmological abnorm...	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: rs869312823 dbSNP
Genome: hg19
Position: chr1:1,737,948-1,737,948
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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