RGD:405034168 Rat Genome Database

RGD:405034168 Rat Genome Database

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Variant: RGD:405034168 - Homo sapiens

RGD ID:

405034168

ClinVar ID:

CV3080985

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	14	50,734,607
GRCh38	14	50,267,889

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_024884.3:c.928T>G NG_008092.1:g.49341T>G NC_000014.9:g.50267889A>C NC_000014.8:g.50734607A>C More...	02/02/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3080985	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)
CV3080985	Human	L-2-hydroxyglutaric aciduria		IAGP		8554872	ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria	ClinVar	PMID:28492532

Gene Symbol:	L2HGDH
Accession:	NM_001425213
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	L2HGDH
Accession:	XM_011537168
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPVLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	XM_017021655
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	L2HGDH
Accession:	NM_001425212
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	310

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

Gene Symbol:	L2HGDH
Accession:	NM_001425216
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPVLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_024884
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	310

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

Gene Symbol:	L2HGDH
Accession:	NM_001425217
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPVLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425214
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	L2HGDH
Accession:	XM_011537167
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	265

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

Gene Symbol:	L2HGDH
Accession:	NM_001425218
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPVLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425215
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPVLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

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

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003602035	CLINVAR
MedGen	C1855995	CLINVAR
NCBI Gene	L2HGDH	CLINVAR
OMIM	236792	CLINVAR
	609584	CLINVAR