RGD:13472142 Rat Genome Database

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Variant: RGD:13472142 -  Homo sapiens

RGD ID: 13472142
RS ID: rs144653364
ClinVar ID: CV445537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCNN1G  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 23,226,089
GRCh38 16 23,214,768
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001039.4:c.1550T>C
NC_000016.10:g.23214768T>C
NM_001039.3:c.1550T>C
NG_011909.1:g.37050T>C
More... 		07/03/2023 missense variant conflicting interpretations of pathogenicity|uncertain significance Bronchiectasis with or without elevated sweat chloride 3; LIDDLE SYNDROME 2; none provided; PHA I, AUTOSOMAL RECESSIVE; Pseudohypoaldosteronism, Type I, Autosomal Recessive; Pseudohypoaldosteronism, Type I, Recessive; PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCNN1G
Accession:NM_001039
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 517
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFTLTAVALILWQCALLVFSFYT
VSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQETREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPL
LIFDQDEKGKARDFFTGRKRKVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMGGSEYGLQVILYINEEEYNPF
LVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLTESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQ
TKMVEKCGCAQYSQPLPPAANYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSITESPANSIEMLLSNFGGQLGLWMSCSVVCVIEIIEVFFIDFFSI
IARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDDDLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQL
TDTQMLDEL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000519048 CLINVAR
  RCV000764039 CLINVAR
dbSNP (RS) rs144653364 CLINVAR
MedGen C3661900 CLINVAR
  C5774176 CLINVAR
NCBI Gene SCNN1G CLINVAR
OMIM 264350 CLINVAR
  600761 CLINVAR
  613071 CLINVAR
  618114 CLINVAR