chr12:6347896:T>A Detail (hg38) (SCNN1A)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_001038.5:c.1987A>T NP_001029.1:p.Thr663Ser
NM_001159576.1:c.2164A>T NP_001153048.1:p.Thr722Ser
NM_001159575.1:c.2056A>T NP_001153047.1:p.Thr686Ser
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
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
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

DescrptionSourceLinks
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
hg38
Position
chr12:6,347,896-6,347,896
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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