RGD:404981136 Rat Genome Database

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Variant: RGD:404981136 -  Homo sapiens

RGD ID: 404981136
ClinVar ID: CV3006348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS4  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 52,942,183
GRCh38 5 53,646,353
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318051.2:c.298G>T
NM_002495.4:c.298G>T
NG_008200.1:g.90719G>T
NC_000005.10:g.53646353G>T
More... 		04/03/2023 non-coding transcript variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFS4
Accession:NM_002495
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIF
VPARNNMQSGVNNTKKWKM*FDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSY
GANFSWNKRTRVSTK*

Gene Symbol:NDUFS4
Accession:NM_001318051
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIF
VPARNNMQSGVNNTKKWKM*FDTRERWENPLMGWASTMEL*

Gene Symbol:NDUFS4
Accession:NR_134473
Location:EXON;NON-CODING

Gene Symbol:NDUFS4
Accession:NR_134474
Location:EXON;NON-CODING

Gene Symbol:NDUFS4
Accession:NR_134475
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10944442   PMID:16213125   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003691252 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFS4 CLINVAR
OMIM 602694 CLINVAR