rs372001660 Rat Genome Database

rs372001660 Rat Genome Database

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

Advanced Search (OLGA)

Variant: rs372001660 - Homo sapiens

RGD ID:

151861518

RS ID:

rs372001660

ClinVar ID:

CV1423367

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	158,538,872
GRCh38	6	158,117,840

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_032861.4:c.1309-19T>G NG_032889.1:g.55441T>G NC_000006.12:g.158117840A>C NC_000006.11:g.158538872A>C	08/23/2022	intron variant	conflicting interpretations of pathogenicity\|uncertain significance	3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1423367	Human	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		IAGP		8554872	ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	SERAC1
Accession:	NM_032861
Location:	INTRON

Gene Symbol:	SERAC1
Accession:	XM_006715586
Location:	INTRON

Gene Symbol:	SERAC1
Accession:	XM_011536198
Location:	INTRON

Gene Symbol:	SERAC1
Accession:	XM_024446573
Location:	INTRON

Gene Symbol:	SERAC1
Accession:	XM_047419421
Location:	INTRON

Gene Symbol:	SERAC1
Accession:	NR_073096
Location:	INTRON;NON-CODING

Gene Symbol:	SERAC1
Accession:	XR_007059349
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001997189	CLINVAR
dbSNP (RS)	rs372001660	CLINVAR
MedGen	C4040739	CLINVAR
NCBI Gene	SERAC1	CLINVAR
OMIM	614725	CLINVAR
	614739	CLINVAR