chr12:6457062:T>A Detail (hg19) (SCNN1A)

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

Genome

Assembly	Position
hg19	chr12:6,457,062-6,457,062
hg38	chr12:6,347,896-6,347,896 View the variant detail on this assembly version.

HGVS

SCNN1A

Type	Transcript	Protein
RefSeq	NM_001159575.1:c.2056A>T	NP_001153047.1:p.Thr686Ser
	NM_001159576.1:c.2164A>T	NP_001153048.1:p.Thr722Ser
	NM_001038.5:c.1987A>T	NP_001029.1:p.Thr663Ser
Ensemble	ENST00000543768.1:c.2056A>T	ENST00000543768.1:p.Thr686Ser
	ENST00000360168.7:c.2164A>T	ENST00000360168.7:p.Thr722Ser
	ENST00000540037.5:c.1087A>T	ENST00000540037.5:p.Thr363Ser
	ENST00000396966.6:c.*393A>T
	ENST00000228916.7:c.1987A>T	ENST00000228916.7:p.Thr663Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.003
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

SCNN1A

Type	Database	ID	Link
Gene	MIM	600228	OMIM
	HGNC	10599	HGNC
	Ensembl	ENSG00000111319	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv44810382	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.366	amyotrophic lateral sclerosis	Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th...	BeFree	24493373	Detail
0.003	amyotrophic lateral sclerosis	Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th...	BeFree	24493373	Detail

Annotation

Annotations

Descrption	Source	Links
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i...	DisGeNET	Detail
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i...	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: -
Genome: hg19
Position: chr12:6,457,062-6,457,062
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Filtering Status (HGVD): PASS
# of samples (HGVD): 979
Mean of sample read depth (HGVD): 10.95
Standard deviation of sample read depth (HGVD): 5.77
Number of reference allele (HGVD): 662
Number of alternative allele (HGVD): 2
Allele Frequency (HGVD): 0.0030120481927710845
Gene Symbol (HGVD): SCNN1A
East Asian Chromosome Counts (ExAC): 6930
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): 89108
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): 1.122233693944427E-5

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