chr6:112139164:G>A Detail (hg38) (LAMA4)

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

Information

Genome

Assembly	Position
hg19	chr6:112,460,366-112,460,366 View the variant detail on this assembly version.
hg38	chr6:112,139,164-112,139,164

HGVS

LAMA4

Type	Transcript	Protein
RefSeq	NM_001105206.2:c.3238C>T	NP_001098676.2:p.Arg1080Ter
	NM_001105207.2:c.3217C>T	NP_001098677.2:p.Arg1073Ter
	NM_002290.4:c.3217C>T	NP_002281.3:p.Arg1073Ter
Ensemble	ENST00000230538.12:c.3238C>T	ENST00000230538.12:p.Arg1080Ter
	ENST00000389463.9:c.3217C>T	ENST00000389463.9:p.Arg1073Ter
	ENST00000424408.6:c.3217C>T	ENST00000424408.6:p.Arg1073Ter
	ENST00000522006.5:c.3217C>T	ENST00000522006.5:p.Arg1073Ter

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	Uncertain significance
Review star
Show details

Links

LAMA4

Type	Database	ID	Link
Gene	MIM	600133	OMIM
	HGNC	6484	HGNC
	Ensembl	ENSG00000112769	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1072292	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-01-23	criteria provided, multiple submitters, no conflicts	dilated cardiomyopathy 1JJ	germline unknown	Detail
Uncertain significance	2023-11-22	criteria provided, single submitter		germline	Detail
Uncertain significance	2023-10-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	CARDIOMYOPATHY, DILATED, 1JJ	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) AND Dilated cardiomyopathy 1JJ	ClinVar	Detail
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) AND Cardiovascular phenotype	ClinVar	Detail
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	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: rs372615994 dbSNP
Genome: hg38
Position: chr6:112,139,164-112,139,164
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8652
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): 121404
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236960890909689E-6

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