RGD:401928963 Rat Genome Database

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Variant: RGD:401928963 -  Homo sapiens

RGD ID: 401928963
ClinVar ID: CV2808893
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXOC3L2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 45,741,978
GRCh38 19 45,238,720
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001382422.1:c.326G>A
NG_054912.2:g.11688G>A
NC_000019.10:g.45238720C>T
NC_000019.9:g.45741978C>T
More... 		05/01/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:EXOC3L2
Accession:NM_001382422
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPILKNLGVSDPKVPRAGTLPLRSSRNPFEEVSGLEEEEAGELGSLPNGTSCRRRATLEKLAGLAPFRLGWAPGRRAGSP
GDGQPRSFLGRVLVPGIRRSSADFGLLAQLHGTRAHGDEEAAGEAARRLAFLRLGRGSKPQRASLAERVVPAGEAAPEPP
PKVPEPPKMKEPLSVLEILSLIQQRELARADEHILELEAEELAPSRGGAPGPPKAEGAGGGRRARDVALLYEALQRELWA
LVRETLAGPGPGACAGAGAVAQLGQVLVQEEAADGRRGPGAARKLRARWAEAVARAARERLEAAAPGAPGGLAGQLEALR
ARLLEDMAVVRGRLAPAYPAGLGAFGVYLRGYHGALAEWLGASARRRLPLADRYALLHWHNQVYPREVLGLVDMAALENG
ELGPLLSPGTLRGLEDECVTDVKAQTRAALLRVLQEDEEHWGSLEDQPSSLAQDVCELLEEHTERAPRISQEFGERMAHC
CLGGLAEFLQSFQQRVERFHENPAVREMLPDTYISKTIALVNCGPPLRALAERLARVGPPESEPAREASASALDHVTRLC
HRVVANLLFQELQPHFNKLMRRKWLSSPEALDGIVGTLGAQALALRRMQDEPYQALVAELHRRALVEYVRPLLRGRLRCS
SARTRSRVAGRLREDAAQLQRLFRRLESQASWLDAVVPHLAEVMQLEDTPSIQVEVGVLVRDYPDIRQKHVAALLDIRGL
RNTAARQEILAVARDLELSEEGALSPPRDRAFFADIPVPRPSFCLSLPLFLGRLPLSRLARPSLACLPRPRPPSLARPRA
QR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003407030 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EXOC3L2 CLINVAR
OMIM 616927 CLINVAR