rs767608517 Rat Genome Database

rs767608517 Rat Genome Database

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Variant: rs767608517 - Homo sapiens

RGD ID:

14713029

RS ID:

rs767608517

ClinVar ID:

CV632476

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	4	83,348,644
GRCh38	4	82,427,491

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000004.12:g.82427491T>C NC_000004.11:g.83348644T>C NR_003249.2:n.1383A>G NP_001193929.1:p.Asp283Gly More...	11/21/2018	missense 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)
CV632476	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

Gene Symbol:	HNRNPDL
Accession:	NM_001207000
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVPPRLSHVPPPLFPSAPATLASRSLSHWRPRPPRQLAPLLPSLAPSSARQGARRAQRHVTAQQPSRLAGGAAIKGGRR RRPDLFRRHFKSSSIQRSAAAAAATRTARQHPPADSSVTMEDMNEYSNIEEFAEGSKINASKNQQDDGKMFIGGLSWDTS KKDLTEYLSRFGEVVDCTIKTDPVTGRSRGFGFVLFKDAASVDKVLELKEHKLDGKLIDPKRAKALKGKEPPKKVFVGGL SPDTSEEQIKEYFGAFGEIENIELPMDTKTNERRGFCFITYTGEEPVKKLLESRYHQIGSGKCEIKVAQPKEVYRQQQQQ QKGGRGAAAGGRGGTRGRGRGQQSTYGKASRGGGNHQNNYQPY*

Gene Symbol:	HNRNPDL
Accession:	NM_031372
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVPPRLSHVPPPLFPSAPATLASRSLSHWRPRPPRQLAPLLPSLAPSSARQGARRAQRHVTAQQPSRLAGGAAIKGGRR RRPDLFRRHFKSSSIQRSAAAAAATRTARQHPPADSSVTMEDMNEYSNIEEFAEGSKINASKNQQDDGKMFIGGLSWDTS KKDLTEYLSRFGEVVDCTIKTDPVTGRSRGFGFVLFKDAASVDKVLELKEHKLDGKLIDPKRAKALKGKEPPKKVFVGGL SPDTSEEQIKEYFGAFGEIENIELPMDTKTNERRGFCFITYTGEEPVKKLLESRYHQIGSGKCEIKVAQPKEVYRQQQQQ QKGGRGAAAGGRGGTRGRGRGQGQNWNQGFNNYYDQGYGNYNSAYGGDQNYSGYGGYDYTGYNYGNYGYGQGYADYSGQQ STYGKASRGGGNHQNNYQPY*

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000822611	CLINVAR
dbSNP (RS)	rs767608517	CLINVAR
MedGen	C1836765	CLINVAR
NCBI Gene	HNRNPDL	CLINVAR
OMIM	607137	CLINVAR
	609115	CLINVAR