RGD:405789051 Rat Genome Database

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Variant: RGD:405789051 -  Homo sapiens

RGD ID: 405789051
ClinVar ID: CV3340439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC106029312  NCF1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 74,193,677
GRCh38 7 74,779,331
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_87t1:c.304A>G
NM_000265.7:c.304A>G
LRG_87:g.10368A>G
NG_009078.2:g.10368A>G
More... 		12/21/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NCF1
Accession:NM_000265
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRFTEIYEFHKTLKEMFPIEAGAINPENRIIPHLPAPKW
FDGQRAAENRQGTLTEYCSTLVSLPTKISRCPHLLDFFKVRPDDLKLPTDNQTKKPETYLMPKDGKSTATDITGPIILQT
YRAIANYEKTSGSEMALSTGDVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDETEDPEPNYAGEPYVAIKAYTAV
EGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFPSMYLQKSGQDVSQAQRQIKRGAPPRRSSIRNAHSIHQRSRKRLS
QDAYRRNSVRFLQQRRRQARPGPQSPGSPLEEERQTQRSKPQPAVPPRPSADLILNRCSESTKRKLASAV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004473484 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene LOC106029312 CLINVAR
  NCF1 CLINVAR
OMIM 608512 CLINVAR