rs1010347467 Rat Genome Database

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Variant: rs1010347467 -  Homo sapiens

RGD ID: 39456322
RS ID: rs1010347467
ClinVar ID: CV966584
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRAT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 155,665,965
GRCh38 4 154,744,813
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004744.5:c.487C>T
NG_009110.1:g.5803C>T
NM_001301645.2:c.487C>T
NC_000004.12:g.154744813C>T
More... 		09/28/2021 missense variant likely pathogenic|uncertain significance AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRAT
Accession:XM_047416405
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
CEYFVTYCRYGTPISPQSDKHVEEYRGLVHQTSQLILRTI*

Gene Symbol:LRAT
Accession:NM_004744
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
CEYFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:LRAT
Accession:NM_001301645
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
CEYFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001257117 CLINVAR
  RCV001732094 CLINVAR
dbSNP (RS) rs1010347467 CLINVAR
MedGen C2750063 CLINVAR
  CN169374 CLINVAR
NCBI Gene LRAT CLINVAR
OMIM 604863 CLINVAR
  613341 CLINVAR