RGD:13521128 Rat Genome Database

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Variant: RGD:13521128 -  Homo sapiens

RGD ID: 13521128
RS ID: rs888052160
ClinVar ID: CV487256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SURF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 136,223,294
GRCh38 9 133,356,418
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001280787.1:c.-240G>A
NM_003172.4:c.36G>A
NG_008477.1:g.5068G>A
NC_000009.12:g.133356418C>T
More... 		08/29/2019 5 prime utr variant|synonymous variant likely benign|uncertain significance AllHighlyPenetrant; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View
Leigh disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SURF1
Accession:NM_001280787
Location:5UTRS;EXON

Gene Symbol:SURF1
Accession:NM_003172
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQ
VQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGA
YVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG
AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000588845 CLINVAR
  RCV002061978 CLINVAR
dbSNP (RS) rs888052160 CLINVAR
MedGen C0023264 CLINVAR
  CN169374 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR