RGD:156172416 Rat Genome Database

RGD:156172416 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:156172416 - Homo sapiens

RGD ID:

156172416

ClinVar ID:

CV1930239

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	9	136,223,108
GRCh38	9	133,356,253

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001280787.1:c.-222+147C>G NM_003172.4:c.106+16C>G NG_008477.2:g.5234C>G NC_000009.12:g.133356253G>C More...	09/12/2023	intron 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)
CV1930239	Human	Leigh disease		IAGP		8554872	ClinVar Annotator: match by term: Leigh syndrome	ClinVar	PMID:28492532

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

Gene Symbol:	SURF1
Accession:	NM_003172
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002624754	CLINVAR
MedGen	C2931891	CLINVAR
NCBI Gene	SURF1	CLINVAR
OMIM	185620	CLINVAR
	256000	CLINVAR
SNOMED CT	29570005	CLINVAR