RGD:11600902 Rat Genome Database

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Variant: RGD:11600902 -  Homo sapiens

RGD ID: 11600902
RS ID: rs202125745
ClinVar ID: CV309368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 107,556,126
GRCh38 7 107,915,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008045.1:g.29541G>A
NC_000007.14:g.107915681G>A
NC_000007.13:g.107556126G>A
NM_000108.3:c.860G>A
More...
07/02/2022 missense variant uncertain significance neonatal/infancy 1-9 / 1 000 000|1-9 / 100 000 Ataxia with lactic acidosis 1; Dihydrolipoamide Dehydrogenase (E3) Deficiency; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Dihydrolipoamide Dehydrogenase E3 Deficiency; DLD DEFICIENCY; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Lipoamide dehydrogenase deficiency; Lipoamide dehydrogenase deficiency, lactic acidosis due to; Maple syrup urine disease, type 3; MAPLE SYRUP URINE DISEASE, TYPE III; Necrotizing encephalopathy infantile subacute of Leigh; PDH DEFICIENCY; Pyruvate decarboxylase deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate dehydrogenase deficiency; Subacute necrotizing encephalopathy
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DLD
Accession:NM_000108
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTC
LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKN
QVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDEKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTK
NLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVA
WVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
ARVCHAHPTLSEAFREANLAASFGKSINF*

Gene Symbol:DLD
Accession:NM_001289752
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTC
LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKIDEDTIVSSTGALS
LKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDEK
IDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAED
EGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTD
RVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF*

Gene Symbol:DLD
Accession:NM_001289751
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKALLNNSHYYHMAHG
KDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIAT
GSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQR
ILQKQGFKFKLNTKVTGATKKSDEKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRF
QTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPF
AANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASF
GKSINF*

Gene Symbol:DLD
Accession:NM_001289750
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNI
LIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISK
NFQRILQKQGFKFKLNTKVTGATKKSDEKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPV
NTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVG
KFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANL
AASFGKSINF*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000277653 CLINVAR
  RCV000313980 CLINVAR
  RCV000353225 CLINVAR
  RCV003243113 CLINVAR
dbSNP (RS) rs202125745 CLINVAR
MedGen C0023264 CLINVAR
  C0034345 CLINVAR
  C0950123 CLINVAR
  C5574660 CLINVAR
  CN043137 CLINVAR
NCBI Gene DLD CLINVAR
OMIM 238331 CLINVAR
  246900 CLINVAR
  256000 CLINVAR
  312170 CLINVAR
SNOMED CT 29570005 CLINVAR
  46683007 CLINVAR