RGD:38598846 Rat Genome Database

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Variant: RGD:38598846 -  Homo sapiens

RGD ID: 38598846
RS ID: rs757503048
ClinVar ID: CV964867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG2B  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 45,706,890
GRCh38 15 45,414,692
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_136648.2:n.1845C>A
NP_076968.2:p.Ala519Asp
NP_001310569.1:p.Ala519Asp
NC_000015.9:g.45706890C>A
More... 		05/30/2022 missense variant likely pathogenic|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AFG2B
Accession:NM_024063
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCTAWPRRDGADGFVQLDPLCAS
PGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERAGAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLV
AALHIVGGTPSPDPAGLVTPRTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLA
GPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLLFLDEMDALCPQRGSRAPESR
VVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRFDREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMT
VGYVGADLTALCREAAMHALLHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSI
EWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALDTSCHCSFVSVSGADLFSPFVGDSEKVLSQIFRQARASTPAI
LFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLKTIERRGSKSSQQEFQEVFNRSVMIIAATNRPDVLDTALLR
PGRLDKIIYIPPPDHKGRLSILKVCTKTMPIGPDVSLENLAAETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFL
KSLKTVKPSLSCKDLALYENLFKKEGFSNVEGI*

Gene Symbol:AFG2B
Accession:NM_001323640
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCTAWPRRDGADGFVQLDPLCAS
PGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERAGAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLV
AALHIVGGTPSPDPAGLVTPRTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLA
GPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLLFLDEMDALCPQRGSRAPESR
VVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRFDREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMT
VGYVGADLTALCREAAMHALLHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSI
EWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALDTSCHCSFVSVSGADLFSPFVGDSEKVLSQIFRQARASTPAI
LFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLKTIERRGSKSSQQGKYKELKK*

Gene Symbol:AFG2B
Accession:NR_027635
Location:EXON;NON-CODING

Gene Symbol:AFG2B
Accession:NR_136647
Location:EXON;NON-CODING

Gene Symbol:AFG2B
Accession:NR_136648
Location:EXON;NON-CODING

Gene Symbol:AFG2B
Accession:NR_136645
Location:EXON;NON-CODING

Gene Symbol:AFG2B
Accession:NR_136646
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001254129 CLINVAR
  RCV002290666 CLINVAR
dbSNP (RS) rs757503048 CLINVAR
MedGen C5562024 CLINVAR
NCBI Gene SPATA5L1 CLINVAR
OMIM 619578 CLINVAR
  619616 CLINVAR