RGD:12893218 Rat Genome Database

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Variant: RGD:12893218 -  Homo sapiens

RGD ID: 12893218
RS ID: rs782289759
ClinVar ID: CV407585
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SURF1  
Reference Nucleotide: -
Variant Nucleotide: GCAG
Position
Assembly Chr Position
GRCh37 9 136,219,562
GRCh38 9 133,352,707
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008477.1:g.8799_8800insCTGC
NM_001280787.1:c.247_248insCTGC
NM_003172.4:c.574_575insCTGC
NC_000009.12:g.133352708_133352709insCAGG
More... 		10/11/2019 frameshift variant pathogenic|likely pathogenic Complex 4 mitochondrial respiratory chain deficiency; Complex IV deficiency; COX deficiency; Cytochrome-c oxidase deficiency; Deficiency of mitochondrial respiratory chain complex4; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Mitochondrial complex IV deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SURF1
Accession:NM_001280787
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNP
ETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRN
EHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*

Gene Symbol:SURF1
Accession:NM_003172
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQ
VQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGA
YVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG
AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*
Variant Samples
Additional References at PubMed
PMID:10443880   PMID:10746561   PMID:11317352   PMID:15214016   PMID:22488715   PMID:24027061   PMID:25111564   PMID:25741868   PMID:28492532   PMID:29933018  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000478177 CLINVAR
  RCV001193160 CLINVAR
  RCV002272252 CLINVAR
dbSNP (RS) rs782289759 CLINVAR
MedGen C0023264 CLINVAR
  C3661900 CLINVAR
  C5435656 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  220110 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR
  67434000 CLINVAR