RGD:156205258 Rat Genome Database

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Variant: RGD:156205258 -  Homo sapiens

RGD ID: 156205258
ClinVar ID: CV2297864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC110599576  SCNN1D  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 1,226,655
GRCh38 1 1,291,275
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130413.4:c.2074A>G
NG_055440.1:g.3996A>G
NC_000001.11:g.1291275A>G
NC_000001.10:g.1226655A>G
More... 		08/17/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SCNN1D
Accession:NM_001130413
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 692
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAVLSQKTTPLPRYLWPGHLSGPRRLTWSWCSDHRTPTCRELGSPHPTPCTGPARGWPRRGGGPCGFTSAGHVLCGYPL
CLLSGPIQGCGTGLGDSSMAFLSRTSPVAAASFQSRQEARGSILLQSCQLPPQWLSTEAWTGEWKQPHGGALTSRSPGPV
APQRPCHLKGWQHRPTQHNAACKQGQAAAQTPPRPGPPSAPPPPPKEGHQEGLVELPASFRELLTFFCTNATIHGAIRLV
CSRGNRLKTTSWGLLSLGALVALCWQLGLLFERHWHRPVLMAVSVHSERKLLPLVTLCDGNPRRPSPVLRHLELLDEFAR
ENIDSLYNVNLSKGRAALSATVPRHEPPFHLDREIRLQRLSHSGSRVRVGFRLCNSTGGDCFYRGYTSGVAAVQDWYHFH
YVDILALLPAAWEDSHGSQDGHFVLSCSYDGLDCQARQFRTFHHPTYGSCYTVDGVWTAQRPGITHGVGLVLRVEQQPHL
PLLSTLAGIRVMVHGRNHTPFLGHHSFSVRPGTEATISIREDEVHRLGSPYGHCTAGGEGVEVELLHNTSYTRQACLVSC
FQQLMVETCSCGYYLHPLPAGAEYCSSARHPAWGHCFYRLYQDLETHRLPCTSRCPRPCRESAFKLSTGTSRWPSAKSAG
WTLATLGEQGLPHQSHRQRSSLAKINIVYQELNYRSVEEAPVYSVPQLLSAVGSLCSLWFGASVLSLLELLELLLDASAL
TLVLGGRRLRRAWFSWPRASPASGASSIKPEASQMPPPAGGTSDDPEPSGPHLPRVMLPGVLAGVSAEESWAGPQPLETL
DT*

Gene Symbol:SCNN1D
Accession:NR_037668
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004157802 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC110599576 CLINVAR
  SCNN1D CLINVAR
OMIM 601328 CLINVAR