chr12:6458350:A>G Detail (hg19) (SCNN1A)

Information

Genome

Assembly Position
hg19 chr12:6,458,350-6,458,350
hg38 chr12:6,349,184-6,349,184 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001038.5:c.1477T>C NP_001029.1:p.Trp493Arg
NM_001159575.1:c.1546T>C NP_001153047.1:p.Trp516Arg
NM_001159576.1:c.1654T>C NP_001153048.1:p.Trp552Arg
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 Benign Likely benign
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
Likely benign 2017-04-27 criteria provided, single submitter Bronchiectasis with or without elevated sweat chloride 2 germline Detail
Benign Likely benign 2016-02-24 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2017-04-27 criteria provided, single submitter autosomal recessive pseudohypoaldosteronism type 1 germline Detail
Benign 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.016 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.015 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.013 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.003 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
<0.001 Intestinal Diseases p.W493R-SCNN1A was detected in three female carriers of F508del CFTR who did not... BeFree 21917531 Detail
<0.001 Metabolic syndrome X Effect modification of the SCNN1A rs5742912 on the MetS by hormone therapy use w... BeFree 19619703 Detail
0.360 Bronchiectasis with or without elevated sweat chloride 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) AND Bronchiectasis with or without elevated sweat chlori... ClinVar Detail
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) AND not specified ClinVar Detail
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) AND Autosomal recessive pseudohypoaldosteronism type 1 ClinVar Detail
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) AND not provided ClinVar Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
p.W493R-SCNN1A was detected in three female carriers of F508del CFTR who did not show any symptoms o... DisGeNET Detail
Effect modification of the SCNN1A rs5742912 on the MetS by hormone therapy use warrants further inve... DisGeNET 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
rs5742912 dbSNP
Genome
hg19
Position
chr12:6,458,350-6,458,350
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
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)
121400
Allele Counts in All Race (ExAC)
2214
Heterozygous Counts in All Race (ExAC)
2158
Homozygous Counts in All Race (ExAC)
28
Allele Frequency in All Race (ExAC)
0.018237232289950576
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