RGD:156255620 Rat Genome Database

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Variant: RGD:156255620 -  Homo sapiens

RGD ID: 156255620
ClinVar ID: CV2219677
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAT3  SCAMP4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 1,912,722
GRCh38 19 1,912,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_612431.2:p.Thr226Pro
NM_001329539.2:c.-125-4971A>C
NM_001329540.2:c.-41-2256A>C
NM_079834.4:c.-41-2256A>C
More... 		06/30/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCAMP4
Accession:NM_079834
Location:5UTRS;INTRON

Gene Symbol:SCAMP4
Accession:NM_001329540
Location:5UTRS;INTRON

Gene Symbol:SCAMP4
Accession:NM_001329539
Location:5UTRS;INTRON

Gene Symbol:ADAT3
Accession:NM_138422
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILCSRLCLPQSASLRMEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVS
ALHPLPAQPHLKRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARA
HWPTSFHEDKQVTSALAGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLAPGHDCSCADNPLLHA
VMVCVDLVARGQGRGTYDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARIL
RVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*

Gene Symbol:ADAT3
Accession:NM_001329533
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVSALHPLPAQPHLKRVRP
SRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARAHWPTSFHEDKQVTSAL
AGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLAPGHDCSCADNPLLHAVMVCVDLVARGQGRGT
YDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVHARILRVFYGAPSPDGALGTR
FRIHARPDLNHRFQVFRGVLEEQCRWLDPDT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002702712 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ADAT3 CLINVAR
  SCAMP4 CLINVAR
OMIM 613764 CLINVAR
  615302 CLINVAR