RGD:401770066 Rat Genome Database

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Pathways
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Variant: RGD:401770066 -  Homo sapiens

RGD ID: 401770066
ClinVar ID: CV2719020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APLF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 68,765,089
GRCh38 2 68,537,957
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173545.3:c.890C>T
NC_000002.12:g.68537957C>T
NC_000002.11:g.68765089C>T
NM_173545.2:c.890C>T
More... 		05/31/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:APLF
Accession:NM_173545
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGFELQPRDGGPRVALAPGETVIGRGPLLGITDKRVSRRHAILEVAGGQLRIKPIHTNPCFYQSSEKSQLLPLKPNLW
CYLNPGDSFSLLVDKYIFRILSIPSEVEMQCTLRNSQVLDEDNILNETPKSPVINLPHETTGASQLEGSTEIAKTQMTPT
NSVSFLGENRDCNKQQPILAERKRILPTWMLAEHLSDQNLSVPAISGGNVIQGSGKEEICKDKSQLNTTQQGRRQLISSG
SSENTSAEQDTGEECKNTDQEESTISSKEMPQSFSAITLSNTEMNNIKTNAQRNKLLIEELGKVSKHKIATKRTPHKEDE
AMSCSENCSSAQGDSLQDESQGSHSESSSNPSNPETLHAKATDSVLQGSEGNKVKRTSCMYGANCYRKNPVHFQHFSHPG
DSDYGGVQIVGQDETDDRPECPYGPSCYRKNPQHKIEYRHNTLPVRNVLDEDNDNVGQPNEYDLNDSFLDDEEEDYEPTD
EDSDWEPGKEDEEKEDVEELLKEAKRFMKRK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004322606 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene APLF CLINVAR
OMIM 611035 CLINVAR