RGD:38598849 Rat Genome Database

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Variant: RGD:38598849 -  Homo sapiens

RGD ID: 38598849
RS ID: rs1890625577
ClinVar ID: CV964869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG2B  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 45,710,792
GRCh38 15 45,418,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_027635.2:n.2130T>G
NR_136647.2:n.2292T>G
NR_136648.2:n.2295T>G
NM_024063.3:c.2006T>G
More... 		11/16/2021 missense variant pathogenic|likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AFG2B
Accession:NM_024063
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 669
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCTAWPRRDGADGFVQLDPLCAS
PGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERAGAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLV
AALHIVGGTPSPDPAGLVTPRTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLA
GPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLLFLDEMDALCPQRGSRAPESR
VVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRFDREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMT
VGYVGADLTALCREAAMHALLHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSI
EWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALATSCHCSFVSVSGADLFSPFVGDSEKVLSQIFRQARASTPAI
LFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLKTIERRGSKSSQQEFQEVFNRSVMIIAATNRPDVLDTALLR
PGRLDKIIYIPPPDHKGRLSILKVCTKTRPIGPDVSLENLAAETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFL
KSLKTVKPSLSCKDLALYENLFKKEGFSNVEGI*

Gene Symbol:AFG2B
Accession:NR_136646
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_027635
Location:EXON;NON-CODING

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

Gene Symbol:AFG2B
Accession:NM_001323640
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:34626583  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001254131 CLINVAR
  RCV001779142 CLINVAR
dbSNP (RS) rs1890625577 CLINVAR
MedGen C5562024 CLINVAR
NCBI Gene SPATA5L1 CLINVAR
OMIM 619578 CLINVAR
  619616 CLINVAR
OMIM Allele 619578.0010 CLINVAR