RGD:156339799 Rat Genome Database

RGD:156339799 Rat Genome Database

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Variant: RGD:156339799 - Homo sapiens

RGD ID:

156339799

ClinVar ID:

CV1997516

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	9	136,218,980
GRCh38	9	133,352,125

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001280787.1:c.442G>A NM_003172.4:c.769G>A NG_008477.2:g.9362G>A NG_008477.1:g.9382G>A More...	01/30/2024	missense variant	pathogenic\|likely pathogenic	Charcot-Marie-Tooth disease type 4K; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K; CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K; Complex 4 mitochondrial respiratory chain deficiency; Complex IV deficiency; COX DEFICIENCY; Deficiency of mitochondrial respiratory chain complex4; Leigh Disease; LEIGH SYNDROME, NUCLEAR; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Mitochondrial complex IV deficiency; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1997516	Human	Leigh disease		IAGP		8554872	ClinVar Annotator: match by term: Leigh syndrome	ClinVar	PMID:22488715 more ...
CV1997516	Human	mitochondrial complex IV deficiency nuclear type 1		IAGP		8554872	ClinVar Annotator: match by term: Mitochondrial complex IV deficiency and nuclear type 1	ClinVar	PMID:22488715 more ...

Gene Symbol:	SURF1
Accession:	NM_003172
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	257

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

Gene Symbol:	SURF1
Accession:	NM_001280787
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	148

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELKNLEYRPVKVRGCFDHSKELYMMPRTMVDPVREAREGGLISSSTQSGAYVVTPFHCTDLGVTILVNRGFVPRKKVNP ETRQKGQIEGEVDLIGMVRLTETRQPFVPENNPERNHWHYRDLEAMARITGAEPIFIDANFQSTVPGRPIGGQTRVTLRN EHLQYIVTWYGLSAATSYLWFKKFLRGTPGV*

ClinVar GRCh37	ClinVar GRCh38

PMID:22488715	PMID:25741868	PMID:28492532	PMID:33013660	PMID:33134083

Database	Acc Id	Source(s)
ClinVar	RCV002650257	CLINVAR
	RCV005042938	CLINVAR
MedGen	C2931891	CLINVAR
	C5435656	CLINVAR
NCBI Gene	SURF1	CLINVAR
OMIM	185620	CLINVAR
	220110	CLINVAR
	256000	CLINVAR
	616684	CLINVAR
SNOMED CT	29570005	CLINVAR