rs776223095 Rat Genome Database

rs776223095 Rat Genome Database

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Variant: rs776223095 - Homo sapiens

RGD ID:

150547535

RS ID:

rs776223095

ClinVar ID:

CV1292066

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	14	50,778,828
GRCh38	14	50,312,110

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001382509.1:c.-6+256C>T NM_024884.3:c.41G>A NG_008092.1:g.5120G>A NC_000014.9:g.50312110C>T More...	02/18/2020	5 prime utr variant\|intron variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1292066	Human	L-2-hydroxyglutaric aciduria		IAGP		8554872	ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1292066	Human	L-2-hydroxyglutaric aciduria		IAGP		8554872	ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria	ClinVar	PMID:25741868

Gene Symbol:	L2HGDH
Accession:	NM_001425218
Location:	5UTRS;EXON

Gene Symbol:	L2HGDH
Accession:	NM_001425215
Location:	5UTRS;EXON

Gene Symbol:	L2HGDH
Accession:	NM_001425214
Location:	5UTRS;EXON

Gene Symbol:	L2HGDH
Accession:	NM_001425213
Location:	5UTRS;EXON

Gene Symbol:	L2HGDH
Accession:	NM_001425216
Location:	5UTRS;EXON

Gene Symbol:	L2HGDH
Accession:	NM_001425217
Location:	5UTRS;EXON

Gene Symbol:	DMAC2L
Accession:	NM_001382509
Location:	5UTRS;INTRON

Gene Symbol:	L2HGDH
Accession:	NM_001425212
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVPALRYLVGACGLARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLE KEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNG VPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPI VIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMD GSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRG PAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_024884
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVPALRYLVGACGLARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLE KEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNG VPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPI VIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMD GSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRG PAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	XR_007064046
Location:	EXON;NON-CODING

Gene Symbol:	L2HGDH
Accession:	XR_007064047
Location:	EXON;NON-CODING

Gene Symbol:	DMAC2L
Accession:	NM_001370605
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_011536652
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	NM_001382510
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	NM_001382507
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_047431270
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	NM_001003803
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_047431273
Location:	INTRON

Gene Symbol:	L2HGDH
Accession:	XM_011537168
Location:	INTRON

Gene Symbol:	L2HGDH
Accession:	XM_017021655
Location:	INTRON

Gene Symbol:	L2HGDH
Accession:	XM_011537167
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	NM_001003805
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_011536657
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_047431271
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_047431272
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_005267537
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	XM_047431274
Location:	INTRON

Gene Symbol:	DMAC2L
Accession:	NM_015684
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001733732	CLINVAR
dbSNP (RS)	rs776223095	CLINVAR
MedGen	C1855995	CLINVAR
NCBI Gene	DMAC2L	CLINVAR
	L2HGDH	CLINVAR
OMIM	236792	CLINVAR
	609584	CLINVAR
	618579	CLINVAR