RGD:402509895 Rat Genome Database

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Variant: RGD:402509895 -  Homo sapiens

RGD ID: 402509895
ClinVar ID: CV2864078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SURF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 136,220,759
GRCh38 9 133,353,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001280787.1:c.33G>A
NM_003172.4:c.360G>A
NG_008477.2:g.7583G>A
NG_008477.1:g.7603G>A
More... 		12/07/2023 synonymous variant likely benign Leigh Disease; LEIGH SYNDROME, NUCLEAR; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2864078HumanLeigh disease  IAGP 8554872ClinVar Annotator: match by term: Leigh syndromeClinVarPMID:28492532
Gene Symbol:SURF1
Accession:NM_003172
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQ
VQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGA
YVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG
AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*

Gene Symbol:SURF1
Accession:NM_001280787
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNP
ETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRN
EHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*
.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003509871 CLINVAR
MedGen C2931891 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR