RGD:40904958 Rat Genome Database

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Variant: RGD:40904958 -  Homo sapiens

RGD ID: 40904958
RS ID: rs2031883055
ClinVar ID: CV978382
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 107,542,255
GRCh38 7 107,901,810
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001289750.1:c.-30-1668G>C
NM_000108.5:c.191G>C
NM_001289751.1:c.191G>C
NM_001289752.1:c.191G>C
More... 		11/11/2021 intron variant uncertain significance Dihydrolipoamide Dehydrogenase (E3) Deficiency; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Dihydrolipoamide Dehydrogenase E3 Deficiency; DLD DEFICIENCY; Lipoamide dehydrogenase deficiency; Lipoamide dehydrogenase deficiency, lactic acidosis due to; Maple syrup urine disease, type 3; MAPLE SYRUP URINE DISEASE, TYPE III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DLD
Accession:NM_001289750
Location:5UTRS;INTRON

Gene Symbol:DLD
Accession:NM_001289751
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLAFKALLNNSHYYHMAHG
KDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIAT
GSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQR
ILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRF
QTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPF
AANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASF
GKSINF*

Gene Symbol:DLD
Accession:NM_000108
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLAFKTVCIEKNETLGGTC
LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKN
QVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTK
NLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVA
WVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
ARVCHAHPTLSEAFREANLAASFGKSINF*

Gene Symbol:DLD
Accession:NM_001289752
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLAFKTVCIEKNETLGGTC
LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKIDEDTIVSSTGALS
LKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGK
IDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAED
EGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTD
RVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001278048 CLINVAR
dbSNP (RS) rs2031883055 CLINVAR
MedGen C5574660 CLINVAR
NCBI Gene DLD CLINVAR
OMIM 238331 CLINVAR
  246900 CLINVAR