RGD:151835780 Rat Genome Database

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Variant: RGD:151835780 -  Homo sapiens

RGD ID: 151835780
RS ID: rs906083307
ClinVar ID: CV1489330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 34,269,872
GRCh38 20 35,681,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001198989.2:c.440G>T
NM_021100.5:c.593G>T
NG_033237.1:g.22416G>T
NC_000020.11:g.35681950C>A
More... 		08/28/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFS1
Accession:NM_001198989
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPRVLDAMLPY
LINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKELEAAIQPDTILVSVMTVNNEIGV
KQPIAEIGRICSSRKVYFHTDAAQAVGKIPLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGM
RSGTVPTPLVVGLGAACEVAQQEMEYDHKRISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAYVEGESLLMALK
DVALSSGSACTSASLEPSYVLRAIGTDEDLAHSSIRFGIGRFTTEEEVDYTVEKCIQHVKRLREMSPLWEMVQDGIDLKS
IKWTQH*

Gene Symbol:NFS1
Accession:NM_021100
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPRVLDAMLPY
LINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKGVARFYRSRKKHLITTQTEHKCVL
DSCRSLEAEGFQVTYLPVQKSGIIDLKELEAAIQPDTILVSVMTVNNEIGVKQPIAEIGRICSSRKVYFHTDAAQAVGKI
PLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGMRSGTVPTPLVVGLGAACEVAQQEMEYDHK
RISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAYVEGESLLMALKDVALSSGSACTSASLEPSYVLRAIGTDED
LAHSSIRFGIGRFTTEEEVDYTVEKCIQHVKRLREMSPLWEMVQDGIDLKSIKWTQH*

Gene Symbol:NFS1
Accession:NR_037570
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001902277 CLINVAR
  RCV002548084 CLINVAR
dbSNP (RS) rs906083307 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene NFS1 CLINVAR
OMIM 603485 CLINVAR