RGD:597694599 Rat Genome Database

RGD:597694599 Rat Genome Database

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Variant: RGD:597694599 - Homo sapiens

RGD ID:

597694599

ClinVar ID:

CV3692676

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	14	50,713,866
GRCh38	14	50,247,148

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001425213.1:c.1191T>G NM_001425214.1:c.1191T>G NM_001425212.1:c.1302T>G NM_024884.3:c.1302T>G More...	07/27/2024	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3692676	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	L2HGDH
Accession:	NM_001425212
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	434

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

Gene Symbol:	L2HGDH
Accession:	NM_001425216
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILQVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	XM_011537167
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	389

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

Gene Symbol:	L2HGDH
Accession:	NM_001425213
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	397

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

Gene Symbol:	L2HGDH
Accession:	NM_001425215
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILQVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_024884
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	434

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

Gene Symbol:	L2HGDH
Accession:	NM_001425218
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILQVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425217
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILQVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	XM_017021655
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	397

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

Gene Symbol:	L2HGDH
Accession:	XM_011537168
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLY SDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFD FSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFD AGVGDIGNRILQVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:	L2HGDH
Accession:	NM_001425214
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	397

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

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004986245	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	L2HGDH	CLINVAR
OMIM	609584	CLINVAR