rs59390116 Rat Genome Database

rs59390116 Rat Genome Database

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Variant: rs59390116 - Homo sapiens

RGD ID:

13789029

RS ID:

rs59390116

ClinVar ID:

CV550016

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	14	50,768,807
GRCh38	14	50,302,089

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008092.1:g.15141A>G NC_000014.9:g.50302089T>C NC_000014.8:g.50768807T>C NP_079160.1:p.Leu112= More...	01/29/2024	synonymous variant	benign\|likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV550016	Human	L-2-hydroxyglutaric aciduria		IAGP		8554872	ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV550016	Human	L-2-hydroxyglutaric aciduria		IAGP		8554872	ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria	ClinVar	PMID:28492532

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

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

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

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

Gene Symbol:	L2HGDH
Accession:	NM_024884
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	112

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

Gene Symbol:	L2HGDH
Accession:	XM_011537167
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	67

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQ QKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQD FQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDY LLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNF SYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATS SIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	XM_017021655
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	75

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTQKDYITASSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGA ALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQ VALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPR IVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGL IKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRN APSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425212
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	112

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

Gene Symbol:	L2HGDH
Accession:	NM_001425213
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	75

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTQKDYITASSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGA ALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQ VALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPR IVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGL IKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRN APSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425214
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	75

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTQKDYITASSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGA ALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQ VALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPR IVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGL IKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRN APSPAATSSIAISGMIADEVQQRFEL*

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

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

Gene Symbol:	L2HGDH
Accession:	XM_011537168
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000676576	CLINVAR
	RCV001079860	CLINVAR
dbSNP (RS)	rs59390116	CLINVAR
MedGen	C1855995	CLINVAR
	C3661900	CLINVAR
NCBI Gene	L2HGDH	CLINVAR
OMIM	236792	CLINVAR
	609584	CLINVAR