rs200595389 Rat Genome Database

rs200595389 Rat Genome Database

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Variant: rs200595389 - Homo sapiens

RGD ID:

14711422

RS ID:

rs200595389

ClinVar ID:

CV632481

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HNRNPDL LOC127401069

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	83,350,599
GRCh38	4	82,429,446

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_031372.3:c.245G>T NM_031372.4:c.245G>T NG_029681.1:g.5780G>T NP_112740.1:p.Arg82Leu More...	01/09/2024	missense variant	likely benign\|conflicting interpretations of pathogenicity\|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)
CV632481	Human	autosomal dominant limb-girdle muscular dystrophy type 3		IAGP		8554872	ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	HNRNPDL
Accession:	NM_031372
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVPPRLSHVPPPLFPSAPATLASRSLSHWRPRPPRQLAPLLPSLAPSSARQGARRAQRHVTAQQPSRLAGGAAIKGGRR RLPDLFRRHFKSSSIQRSAAAAAATRTARQHPPADSSVTMEDMNEYSNIEEFAEGSKINASKNQQDDGKMFIGGLSWDTS KKDLTEYLSRFGEVVDCTIKTDPVTGRSRGFGFVLFKDAASVDKVLELKEHKLDGKLIDPKRAKALKGKEPPKKVFVGGL SPDTSEEQIKEYFGAFGEIENIELPMDTKTNERRGFCFITYTDEEPVKKLLESRYHQIGSGKCEIKVAQPKEVYRQQQQQ QKGGRGAAAGGRGGTRGRGRGQGQNWNQGFNNYYDQGYGNYNSAYGGDQNYSGYGGYDYTGYNYGNYGYGQGYADYSGQQ STYGKASRGGGNHQNNYQPY*

Gene Symbol:	HNRNPDL
Accession:	NM_001207000
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVPPRLSHVPPPLFPSAPATLASRSLSHWRPRPPRQLAPLLPSLAPSSARQGARRAQRHVTAQQPSRLAGGAAIKGGRR RLPDLFRRHFKSSSIQRSAAAAAATRTARQHPPADSSVTMEDMNEYSNIEEFAEGSKINASKNQQDDGKMFIGGLSWDTS KKDLTEYLSRFGEVVDCTIKTDPVTGRSRGFGFVLFKDAASVDKVLELKEHKLDGKLIDPKRAKALKGKEPPKKVFVGGL SPDTSEEQIKEYFGAFGEIENIELPMDTKTNERRGFCFITYTDEEPVKKLLESRYHQIGSGKCEIKVAQPKEVYRQQQQQ QKGGRGAAAGGRGGTRGRGRGQQSTYGKASRGGGNHQNNYQPY*

Gene Symbol:	HNRNPDL
Accession:	NR_003249
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000817684	CLINVAR
dbSNP (RS)	rs200595389	CLINVAR
MedGen	C1836765	CLINVAR
NCBI Gene	HNRNPDL	CLINVAR
OMIM	607137	CLINVAR
	609115	CLINVAR