RGD:402513161 Rat Genome Database

RGD:402513161 Rat Genome Database

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Variant: RGD:402513161 - Homo sapiens

RGD ID:

402513161

ClinVar ID:

CV2911193

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC130002899 SURF1

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	9	136,223,285
GRCh38	9	133,356,409

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001280787.1:c.-231G>T NM_003172.4:c.45G>T NG_182345.1:g.221C>A NG_008477.1:g.5077G>T More...	06/03/2023	5 prime utr 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)
CV2911193	Human	Leigh disease		IAGP		8554872	ClinVar Annotator: match by term: Leigh syndrome	ClinVar	PMID:28492532

Gene Symbol:	SURF1
Accession:	NM_001280787
Location:	5UTRS;EXON

Gene Symbol:	SURF1
Accession:	NM_003172
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	15

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAVAALQLGLRAAGLGRAPASAAWRSVLRVSPRPGVAWRPSRCGSSAAEASATKAEDDSFLQWVLLLIPVTAFGLGTWQ VQRRKWKLNLIAELESRVLAEPVPLPADPMELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGA YVVTPFHCTDLGVTILVNRGFVPRKKVNPETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITG AEPIFIDANFQSTVPGGPIGGQTRVTLRNEHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003510163	CLINVAR
MedGen	C2931891	CLINVAR
NCBI Gene	SURF1	CLINVAR
OMIM	185620	CLINVAR
	256000	CLINVAR
SNOMED CT	29570005	CLINVAR