rs2128420377 Rat Genome Database

rs2128420377 Rat Genome Database

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Variant: rs2128420377 - Homo sapiens

RGD ID:

126924286

RS ID:

rs2128420377

ClinVar ID:

CV1044032

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	158,565,455
GRCh38	6	158,144,423

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_032861.4:c.488-3T>G NG_032889.1:g.28858T>G NC_000006.12:g.158144423A>C NC_000006.11:g.158565455A>C	09/10/2020	intron variant	uncertain significance	3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1044032	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:17576681\|PMID:28492532\|PMID:9536098

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:9536098	PMID:17576681	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001366858	CLINVAR
dbSNP (RS)	rs2128420377	CLINVAR
MedGen	C4040739	CLINVAR
NCBI Gene	SERAC1	CLINVAR
OMIM	614725	CLINVAR
	614739	CLINVAR