rs1578086972 Rat Genome Database

rs1578086972 Rat Genome Database

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Variant: rs1578086972 - Homo sapiens

RGD ID:

14708579

RS ID:

rs1578086972

ClinVar ID:

CV632482

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

HNRNPDL LOC127401069

Reference Nucleotide:

C

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	4	83,350,676
GRCh38	4	82,429,523

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001193929.1:p.Ala57fs NM_031372.3:c.169delG NM_001207000.1:c.169del NC_000004.12:g.82429524del More...	08/14/2018	frameshift variant	uncertain significance	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)
CV632482	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	RCV000809925	CLINVAR
dbSNP (RS)	rs1578086972	CLINVAR
MedGen	C1836765	CLINVAR
NCBI Gene	HNRNPDL	CLINVAR
OMIM	607137	CLINVAR
	609115	CLINVAR