rs370761734 Rat Genome Database

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Variant: rs370761734 -  Homo sapiens

RGD ID: 151792303
RS ID: rs370761734
ClinVar ID: CV1482472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 52,978,955
GRCh38 5 53,683,125
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.358C>G
NM_002495.4:c.432C>G
NG_008200.1:g.127491C>G
NC_000005.10:g.53683125C>G
More...
07/04/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFS4
Accession:NM_001318051
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIF
VPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTMEV*

Gene Symbol:NDUFS4
Accession:NM_002495
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIF
VPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNGWRYDIEERKVPKPKSKSY
GANFSWNKRTRVSTK*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002047221 CLINVAR
dbSNP (RS) rs370761734 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFS4 CLINVAR
OMIM 602694 CLINVAR