chr1:209623716:C>T Detail (hg38) (LAMB3)

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

Genome

Assembly	Position
hg19	chr1:209,797,061-209,797,061 View the variant detail on this assembly version.
hg38	chr1:209,623,716-209,623,716

HGVS

LAMB3

Type	Transcript	Protein
RefSeq	NM_000228.2:c.2147G>A	NP_000219.2:p.Arg716Gln
	NM_001127641.1:c.2147G>A	NP_001121113.1:p.Arg716Gln
	NM_001017402.1:c.2147G>A	NP_001017402.1:p.Arg716Gln
Ensemble	ENST00000356082.9:c.2147G>A	ENST00000356082.9:p.Arg716Gln
	ENST00000367030.7:c.2147G>A	ENST00000367030.7:p.Arg716Gln
	ENST00000391911.5:c.2147G>A	ENST00000391911.5:p.Arg716Gln

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	Likely benign
Review star
Show details

Links

LAMB3

Type	Database	ID	Link
Gene	MIM	150310	OMIM
	HGNC	6490	HGNC
	Ensembl	ENSG00000196878	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv304138692	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2024-01-19	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2020-06-26	criteria provided, single submitter	LAMB3-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000228.3(LAMB3):c.2147G>A (p.Arg716Gln) AND not provided	ClinVar	Detail
NM_000228.3(LAMB3):c.2147G>A (p.Arg716Gln) AND LAMB3-related disorder	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: rs114174766 dbSNP
Genome: hg38
Position: chr1:209,623,716-209,623,716
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8626
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120522
Allele Counts in All Race (ExAC): 68
Heterozygous Counts in All Race (ExAC): 68
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.642123429747266E-4

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