RGD:38598848 Rat Genome Database

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Variant: RGD:38598848 -  Homo sapiens

RGD ID: 38598848
RS ID: rs1890623871
ClinVar ID: CV964868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG2B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 45,710,759
GRCh38 15 45,418,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_136645.2:n.2074G>A
NM_024063.3:c.1973G>A
NC_000015.10:g.45418561G>A
NC_000015.9:g.45710759G>A
More... 		08/10/2020 missense variant likely pathogenic

Variant Details
Variant Transcripts
Gene Symbol:AFG2B
Accession:NM_024063
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 658
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCTAWPRRDGADGFVQLDPLCAS
PGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERAGAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLV
AALHIVGGTPSPDPAGLVTPRTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLA
GPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLLFLDEMDALCPQRGSRAPESR
VVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRFDREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMT
VGYVGADLTALCREAAMHALLHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSI
EWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALATSCHCSFVSVSGADLFSPFVGDSEKVLSQIFRQARASTPAI
LFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLKTIERRGSKSSQQEFQEVFNRSVMIIAATNRPDVLDTALLR
PGRLDKIIYIPPPDHKGKLSILKVCTKTMPIGPDVSLENLAAETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFL
KSLKTVKPSLSCKDLALYENLFKKEGFSNVEGI*

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

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

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

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

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

Gene Symbol:AFG2B
Accession:NM_001323640
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001254130 CLINVAR
dbSNP (RS) rs1890623871 CLINVAR
NCBI Gene SPATA5L1 CLINVAR
OMIM 619578 CLINVAR