RGD:11645911 Rat Genome Database

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Variant: RGD:11645911 -  Homo sapiens

RGD ID: 11645911
RS ID: rs886063630
ClinVar ID: CV317067
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SURF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 136,220,753
GRCh38 9 133,353,898
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008477.1:g.7609C>T
NC_000009.12:g.133353898G>A
NC_000009.11:g.136220753G>A
NP_003163.1:p.Val122=
More...
03/29/2021 synonymous variant conflicting interpretations of pathogenicity|uncertain significance 1-9 / 100 000 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_003172
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 122
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: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNP
ETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRN
EHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000268062 CLINVAR
dbSNP (RS) rs886063630 CLINVAR
MedGen C0023264 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR