RGD:8565878 Rat Genome Database

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Variant: RGD:8565878 -  Homo sapiens

RGD ID: 8565878
RS ID: rs121912984
ClinVar ID: CV31906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 116,155,804
GRCh38 9 113,393,524
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008716.1:g.12815C>G
NC_000009.12:g.113393524G>C
NC_000009.11:g.116155804G>C
NP_000022.3:p.Phe12Leu
More... 		08/11/2023 5 prime utr variant|missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALAD
Accession:XM_047422946
Location:5UTRS;EXON

Gene Symbol:ALAD
Accession:NM_001003945
Location:5UTRS;EXON

Gene Symbol:ALAD
Accession:XM_047422947
Location:5UTRS;INTRON

Gene Symbol:ALAD
Accession:XM_011518364
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYLHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEE
GLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLA
EVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGAR
GLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAG
ADIIITYYTPQLLQWLKEE*

Gene Symbol:ALAD
Accession:XM_047422945
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYLHPLLRAWQTATTTLNASNLIYPIFVT
DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVA
CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSA
KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV
SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:ALAD
Accession:NM_000031
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPQSVLHSGYLHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFG
VPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKA
GCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDR
DVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYT
PQLLQWLKEE*

Gene Symbol:ALAD
Accession:NM_001317745
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYLHPLLRAWQTATTTLNASNLIYPIFVTYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKD
ERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPS
DMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADM
LMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLK
EE*

Gene Symbol:ALAD
Accession:XM_047422944
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYLHPLLRAWQTATTTLNASNLIYPIFVT
DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVA
CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSA
KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV
SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*
Variant Samples
Additional References at PubMed
PMID:10519994   PMID:16398658   PMID:17236137   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018363 CLINVAR
  RCV000413492 CLINVAR
dbSNP (RS) rs121912984 CLINVAR
MedGen C3661900 CLINVAR
  C4016013 CLINVAR
NCBI Gene ALAD CLINVAR
OMIM 125270 CLINVAR
OMIM Allele 125270.0006 CLINVAR