RGD:14725898 Rat Genome Database

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Variant: RGD:14725898 -  Homo sapiens

RGD ID: 14725898
RS ID: rs1050473947
ClinVar ID: CV637933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SURF1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 136,218,926
GRCh38 9 133,352,071
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.496A>C
NM_003172.4:c.823A>C
NG_008477.1:g.9436A>C
NC_000009.12:g.133352071T>G
More...
10/17/2018 missense variant uncertain significance 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: I to L (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQ
VQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGA
YVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG
AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYLVTWYGLSAATSYLWFKKFLRGTPGV*

Gene Symbol:SURF1
Accession:NM_001280787
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNP
ETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGGPIGGQTRVTLRN
EHLQYLVTWYGLSAATSYLWFKKFLRGTPGV*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000799005 CLINVAR
dbSNP (RS) rs1050473947 CLINVAR
MedGen C0023264 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  256000 CLINVAR
SNOMED CT 29570005 CLINVAR