RGD:151793948 Rat Genome Database

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Variant: RGD:151793948 -  Homo sapiens

RGD ID: 151793948
RS ID: rs1227367592
ClinVar ID: CV1434186
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: L2HGDH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 50,768,859
GRCh38 14 50,302,141
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024884.3:c.284G>A
NG_008092.1:g.15089G>A
NC_000014.9:g.50302141C>T
NC_000014.8:g.50768859C>T
More... 		12/01/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:L2HGDH
Accession:NM_024884
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLE
KEKDLAVHQTGHNSDVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNG
VPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPI
VIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMD
GSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRG
PAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:L2HGDH
Accession:XM_005268075
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLE
KEKDLAVHQTGHNSDVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNG
VPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPI
VIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMD
GSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRG
PAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL*

Gene Symbol:L2HGDH
Accession:XM_011537167
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSDVIHSGIYYKPESLKAKLCVQGAALLYEYCQ
QKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQD
FQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDY
LLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNF
SYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATS
SIAISGMIADEVQQRFEL*

Gene Symbol:L2HGDH
Accession:XM_017021655
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQKDYITASSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSDVIHSGIYYKPESLKAKLCVQGA
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

Gene Symbol:L2HGDH
Accession:XM_047431777
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001866506 CLINVAR
dbSNP (RS) rs1227367592 CLINVAR
MedGen C1855995 CLINVAR
NCBI Gene L2HGDH CLINVAR
OMIM 236792 CLINVAR
  609584 CLINVAR