rs148162521 Rat Genome Database

rs148162521 Rat Genome Database

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Variant: rs148162521 - Homo sapiens

RGD ID:

150331954

RS ID:

rs148162521

ClinVar ID:

CV1169161

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	6	158,535,612
GRCh38	6	158,114,580

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000006.12:g.158114580A>G NC_000006.11:g.158535612A>G NR_073096.2:n.1808T>C NM_032861.4:c.1684+209T>C NG_032889.1:g.58701T>C More...	10/08/2021	intron variant	likely benign	3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1169161	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

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

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:	XR_007059349
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001536694	CLINVAR
	RCV002501871	CLINVAR
dbSNP (RS)	rs148162521	CLINVAR
MedGen	C3661900	CLINVAR
	C4040739	CLINVAR
NCBI Gene	SERAC1	CLINVAR
OMIM	614725	CLINVAR
	614739	CLINVAR