rs376132802 Rat Genome Database

rs376132802 Rat Genome Database

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Variant: rs376132802 - Homo sapiens

RGD ID:

151721649

RS ID:

rs376132802

ClinVar ID:

CV1491757

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	14	50,736,023
GRCh38	14	50,269,305

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_024884.3:c.764T>C NG_008092.1:g.47925T>C NC_000014.9:g.50269305A>G NC_000014.8:g.50736023A>G NP_079160.1:p.Val255Ala More...	07/21/2022	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1491757	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)
CV1491757	Human	L-2-hydroxyglutaric aciduria		IAGP		8554872	ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria	ClinVar	PMID:28492532

Gene Symbol:	L2HGDH
Accession:	NM_001425212
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	255

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

Gene Symbol:	L2HGDH
Accession:	XM_011537168
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYAVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425215
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYAVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425214
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	218

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

Gene Symbol:	L2HGDH
Accession:	NM_001425213
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	218

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

Gene Symbol:	L2HGDH
Accession:	NM_001425217
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYAVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	XM_017021655
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	218

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

Gene Symbol:	L2HGDH
Accession:	NM_001425218
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYAVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425216
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	73

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYAVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_024884
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	255

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

Gene Symbol:	L2HGDH
Accession:	XM_011537167
Location:	EXON
Amino Acid Prediction:	V to A (nonsynonymous)
Amino Acid Position:	210

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

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002003760	CLINVAR
dbSNP (RS)	rs376132802	CLINVAR
MedGen	C1855995	CLINVAR
NCBI Gene	L2HGDH	CLINVAR
OMIM	236792	CLINVAR
	609584	CLINVAR