RGD:401777194 Rat Genome Database

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Variant: RGD:401777194 -  Homo sapiens

RGD ID: 401777194
ClinVar ID: CV2721641
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARPC5L  LOC130002587  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 127,631,678
GRCh38 9 124,869,399
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030978.3:c.109C>G
NG_182033.1:g.654C>G
NC_000009.12:g.124869399C>G
NC_000009.11:g.127631678C>G
More... 		05/24/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARPC5L
Accession:XM_047423941
Location:5UTRS;EXON

Gene Symbol:ARPC5L
Accession:NM_030978
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARNTLSSRFRRVDIDEFDENKFVDEQEEAAAAAAEAGPDPSEVDGLLRQGDMLRAFHAALRNSPVNTKNQAVKERAQGV
VLKVLTNFKSSEIEQAVQSLDRNGVDLLMKYIYKGFEKPTENSSAVLLQWHEKALAVGGLGSIIRVLTARKTV*

Gene Symbol:ARPC5L
Accession:XM_047423939
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARNTLSSRFRRVDIDEFDENKFVDEQEEAAAAAAEAGPDPSEVDGLLRQYPSLTRRPGLRAAFSPSHLPTFSGPFGRAS
PVSDPWPPQEIGPMAGLGRRQGGAILNWW*

Gene Symbol:ARPC5L
Accession:XM_047423938
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARNTLSSRFRRVDIDEFDENKFVDEQEEAAAAAAEAGPDPSEVDGLLRQYPSLTRRPGLRAAFSPSHLPTFSGPFGRAS
PVSDPWPPQEIGPMAGLGRRQGGGEPHLSNRVIGEAGARSSGARLLHGVKIGGWTAVGKTEPRREWRRPPYFSPGV*

Gene Symbol:ARPC5L
Accession:XR_007061359
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003263481 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ARPC5L CLINVAR
  LOC130002587 CLINVAR