chr1:1737964:C>T 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	chr1:1,737,964-1,737,964
hg38	chr1:1,806,525-1,806,525 View the variant detail on this assembly version.

HGVS

GNB1

Type	Transcript	Protein
RefSeq	NM_001282539.1:c.217G>A	NP_001269468.1:p.Ala73Thr
	NM_002074.4:c.217G>A	NP_002065.1:p.Ala73Thr
	NM_001282538.1:c.-84G>A
Ensemble	ENST00000703701.1:c.217G>A	ENST00000703701.1:p.Ala73Thr
	ENST00000610897.4:c.217G>A	ENST00000610897.4:p.Ala73Thr
	ENST00000703694.1:c.217G>A	ENST00000703694.1:p.Ala73Thr
	ENST00000703706.1:c.217G>A	ENST00000703706.1:p.Ala73Thr
	ENST00000703697.1:c.217G>A	ENST00000703697.1:p.Ala73Thr
	ENST00000703709.1:c.217G>A	ENST00000703709.1:p.Ala73Thr
	ENST00000703700.1:c.217G>A	ENST00000703700.1:p.Ala73Thr
	ENST00000703710.1:c.217G>A	ENST00000703710.1:p.Ala73Thr
	ENST00000378609.9:c.217G>A	ENST00000378609.9:p.Ala73Thr
	ENST00000703707.1:c.178G>A	ENST00000703707.1:p.Ala60Thr
	ENST00000703711.1:c.217G>A	ENST00000703711.1:p.Ala73Thr
	ENST00000615252.5:c.-84G>A
	ENST00000703704.1:c.217G>A	ENST00000703704.1:p.Ala73Thr
	ENST00000703696.1:c.217G>A	ENST00000703696.1:p.Ala73Thr
	ENST00000703705.1:c.85G>A	ENST00000703705.1:p.Ala29Thr
	ENST00000703693.1:c.217G>A	ENST00000703693.1:p.Ala73Thr
	ENST00000703708.1:c.217G>A	ENST00000703708.1:p.Ala73Thr
	ENST00000703692.1:c.217G>A	ENST00000703692.1:p.Ala73Thr
	ENST00000703699.1:c.217G>A	ENST00000703699.1:p.Ala73Thr
	ENST00000703702.1:c.217G>A	ENST00000703702.1:p.Ala73Thr
	ENST00000703703.1:c.217G>A	ENST00000703703.1:p.Ala73Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Likely 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.217G>A (p.Ala73Thr) 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: -
Genome: hg19
Position: chr1:1,737,964-1,737,964
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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