rs749981753 Rat Genome Database

rs749981753 Rat Genome Database

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Variant: rs749981753 - Homo sapiens

RGD ID:

13465111

RS ID:

rs749981753

ClinVar ID:

CV453588

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

HNRNPDL LOC127401069

Reference Nucleotide:

GCTGCCGCGGCGGCC

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	4	83,350,733 - 83,350,748
GRCh38	4	82,429,580 - 82,429,595

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_031372.4:c.98_112del NP_112740.1:p.Arg33_Gln37del NP_112740.1:p.Arg33_Gln37del NM_031372.3:c.98_112delGGCCGCCGCGGCAGC More...	12/13/2023	inframe_deletion	benign\|likely benign\|uncertain significance	HNRNPDL-related condition; Limb-girdle muscular dystrophy, type 1G; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV453588	Human	autosomal dominant limb-girdle muscular dystrophy type 3		IAGP		8554872	ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000542629	CLINVAR
	RCV003960309	CLINVAR
dbSNP (RS)	rs749981753	CLINVAR
MedGen	C1836765	CLINVAR
NCBI Gene	HNRNPDL	CLINVAR
OMIM	607137	CLINVAR
	609115	CLINVAR