chr12:6483610:C>T Detail (hg19) (SCNN1A)

Information

Genome

Assembly Position
hg19 chr12:6,483,610-6,483,610
hg38 chr12:6,374,444-6,374,444 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001038.5:c.340G>A NP_001029.1:p.Val114Ile
NM_001159575.1:c.409G>A NP_001153047.1:p.Val137Ile
NM_001159576.1:c.517G>A NP_001153048.1:p.Val173Ile
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
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
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-03-29 criteria provided, single submitter Bronchiectasis with or without elevated sweat chloride 2 germline Detail
Uncertain significance 2019-04-02 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Bronchiectasis with or without elevated sweat chloride 2 NA CLINVAR Detail
0.360 Bronchiectasis with or without elevated sweat chloride 2 Mutations in the amiloride-sensitive epithelial sodium channel in patients with ... UNIPROT 19462466 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) AND Bronchiectasis with or without elevated sweat chlorid... ClinVar Detail
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) AND not provided ClinVar Detail
NA DisGeNET Detail
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like... 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
rs61759861 dbSNP
Genome
hg19
Position
chr12:6,483,610-6,483,610
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121182
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.077255698040963E-5
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