RGD:407573598 Rat Genome Database

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Variant: RGD:407573598 -  Homo sapiens

RGD ID: 407573598
ClinVar ID: CV3497960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129934004  NFU1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 69,664,493
GRCh38 2 69,437,361
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031931.1:g.5268G>C
NC_000002.12:g.69437361C>G
NC_000002.11:g.69664493C>G
NR_045631.2:n.75G>C
More... 		09/09/2024 5 prime utr variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NFU1
Accession:NM_015700
Location:5UTRS;EXON

Gene Symbol:NFU1
Accession:NM_001002756
Location:5UTRS;EXON

Gene Symbol:NFU1
Accession:NM_001374284
Location:5UTRS;INTRON

Gene Symbol:NFU1
Accession:XM_047443939
Location:5UTRS;INTRON

Gene Symbol:NFU1
Accession:NM_001002755
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPV
LETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGE
AGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQ
VMDDESDEKEANSP*

Gene Symbol:NFU1
Accession:NR_045632
Location:EXON;NON-CODING

Gene Symbol:NFU1
Accession:NR_045631
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25918518  


Additional Information

Database Acc Id Source(s)
ClinVar RCV004701945 CLINVAR
MedGen C3276432 CLINVAR
NCBI Gene LOC129934004 CLINVAR
  NFU1 CLINVAR
OMIM 605711 CLINVAR
  608100 CLINVAR
OMIM Allele 608100.0012 CLINVAR