RGD:127323175 Rat Genome Database

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Variant: RGD:127323175 -  Homo sapiens

RGD ID: 127323175
RS ID: rs200592030
ClinVar ID: CV1161574
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 34,285,715
GRCh38 20 35,697,793
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.215G>A
NM_021100.5:c.215G>A
NG_033237.1:g.6573G>A
NC_000020.11:g.35697793C>T
More...
05/19/2022 missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFS1
Accession:NM_021100
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPQVLDAMLPY
LINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKGVARFYRSRKKHLITTQTEHKCVL
DSCRSLEAEGFQVTYLPVQKSGIIDLKELEAAIQPDTSLVSVMTVNNEIGVKQPIAEIGRICSSRKVYFHTDAAQAVGKI
PLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGMRSGTVPTPLVVGLGAACEVAQQEMEYDHK
RISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAYVEGESLLMALKDVALSSGSACTSASLEPSYVLRAIGTDED
LAHSSIRFGIGRFTTEEEVDYTVEKCIQHVKRLREMSPLWEMVQDGIDLKSIKWTQH*

Gene Symbol:NFS1
Accession:NM_001198989
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPQVLDAMLPY
LINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKELEAAIQPDTSLVSVMTVNNEIGV
KQPIAEIGRICSSRKVYFHTDAAQAVGKIPLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGM
RSGTVPTPLVVGLGAACEVAQQEMEYDHKRISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAYVEGESLLMALK
DVALSSGSACTSASLEPSYVLRAIGTDEDLAHSSIRFGIGRFTTEEEVDYTVEKCIQHVKRLREMSPLWEMVQDGIDLKS
IKWTQH*

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

Variant Samples
Additional References at PubMed
PMID:24498631   PMID:25741868   PMID:28492532   PMID:33457206  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001523893 CLINVAR
  RCV002568046 CLINVAR
dbSNP (RS) rs200592030 CLINVAR
MedGen C3661900 CLINVAR
  C5543592 CLINVAR
NCBI Gene NFS1 CLINVAR
OMIM 603485 CLINVAR
  619386 CLINVAR
OMIM Allele 603485.0001 CLINVAR