rs2131129465 Rat Genome Database

rs2131129465 Rat Genome Database

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Variant: rs2131129465 - Homo sapiens

RGD ID:

152103626

RS ID:

rs2131129465

ClinVar ID:

CV1571956

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DOLK LOC127816175

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	9	131,709,556
GRCh38	9	128,947,277

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_017009.1:g.5457C>G NC_000009.12:g.128947277G>C NC_000009.11:g.131709556G>C NP_055723.1:p.Ala9= More...	07/06/2022	synonymous variant	likely benign	Carbohydrate deficient glycoprotein syndrome type 1m; CDG Im; Congenital disorder of glycosylation type 1M; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; DK1 DEFICIENCY; DK1-CDG; DOLICHOL KINASE DEFICIENCY; DOLK-congenital disorder of glycosylation

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1571956	Human	congenital disorder of glycosylation Im		IAGP		8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M	ClinVar	PMID:28492532

Gene Symbol:	DOLK
Accession:	NM_014908
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	9

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSG LLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNA KRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERD SGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002173423	CLINVAR
dbSNP (RS)	rs2131129465	CLINVAR
MedGen	C1835849	CLINVAR
NCBI Gene	DOLK	CLINVAR
OMIM	610746	CLINVAR
	610768	CLINVAR
SNOMED CT	718712005	CLINVAR