chr12:6483709:G>A Detail (hg19) (SCNN1A)

Information

Genome

Assembly Position
hg19 chr12:6,483,709-6,483,709
hg38 chr12:6,374,543-6,374,543 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001159576.1:c.418C>T NP_001153048.1:p.Arg140Cys
NM_001159575.1:c.310C>T NP_001153047.1:p.Arg104Cys
NM_001038.5:c.241C>T NP_001029.1:p.Arg81Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
Pathogenic 2009-07-01 no assertion criteria provided Bronchiectasis with or without elevated sweat chloride 2 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
Annotation

Annotations

DescrptionSourceLinks
NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) AND Bronchiectasis with or without elevated sweat chloride... 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
rs61759860 dbSNP
Genome
hg19
Position
chr12:6,483,709-6,483,709
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser