RGD:408367209 Rat Genome Database

RGD:408367209 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:408367209 - Homo sapiens

RGD ID:

408367209

ClinVar ID:

CV3515748

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HNRNPDL LOC127401069

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	83,350,607
GRCh38	4	82,429,454

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001207000.1:c.237C>T NM_031372.4:c.237C>T NG_103032.1:g.429G>A NG_029681.1:g.5772C>T More...	12/10/2024	non-coding transcript variant	likely benign	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)
CV3515748	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	RCV004757883	CLINVAR
	RCV005059882	CLINVAR
MedGen	C1836765	CLINVAR
NCBI Gene	HNRNPDL	CLINVAR
OMIM	607137	CLINVAR
	609115	CLINVAR