RGD:329397988 Rat Genome Database

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Variant: RGD:329397988 -  Homo sapiens

RGD ID: 329397988
ClinVar ID: CV2467137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127886753  ORMDL3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 38,080,335
GRCh38 17 39,924,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320801.2:c.122C>T
NM_001320802.2:c.122C>T
NM_001320803.1:c.122C>T
NM_139280.4:c.122C>T
More... 		03/02/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ORMDL3
Accession:XM_047437093
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSILFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKA
RLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY*

Gene Symbol:ORMDL3
Accession:NM_001320802
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSILFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKA
RLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY*

Gene Symbol:ORMDL3
Accession:NM_139280
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSILFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKA
RLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY*

Gene Symbol:ORMDL3
Accession:XM_047437095
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSILFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKA
RLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY*

Gene Symbol:ORMDL3
Accession:XM_047437094
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSILFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKA
RLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY*

Gene Symbol:ORMDL3
Accession:NM_001320803
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSILFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKA
RLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY*

Gene Symbol:ORMDL3
Accession:NM_001320801
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSILFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKA
RLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004282863 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ORMDL3 CLINVAR
OMIM 610075 CLINVAR