RGD:156129817 Rat Genome Database

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Variant: RGD:156129817 -  Homo sapiens

RGD ID: 156129817
ClinVar ID: CV2209875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL356608.3  AS3MT  BORCS7-ASMT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 104,660,363
GRCh38 10 102,900,606
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020682.4:c.1034A>G
NC_000010.11:g.102900606A>G
NC_000010.10:g.104660363A>G
NR_037644.1:n.1439A>G
More... 		12/28/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYT19
Accession:NM_020682
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRDAEIQKDVQTYYGQVLKRSADLQTNGCVTTARPVPKHIREALQNVHEEVALRYYGCGLVIPEHLENCWILDLGSG
SGRDCYVLSQLVGEKGHVTGIDMTKGQVEVAEKYLDYHMEKYGFQASNVTFIHGYIEKLGEAGIKNESHDIVVSNCVINL
VPDKQQVLQEAYRVLKHGGELYFSDVYTSLELPEEIRTHKVLWGECLGGALYWKELAVLAQKIGFCPPRLVTANLITIQN
KELERVIGDCRFVSATFRLFKHSKTGPTKRCQVIYNGGITGHEKELMFDANFTFKEGEIVEVDEETAAILKNSRFAQDFL
IRPIGEKLPTSGGCSALELKDIITGPFKLAEESDSMKSRCVPDAAGGCCGTKKSC*

Gene Symbol:BORCS7-ASMT
Accession:NR_037644
Location:EXON;NON-CODING

Gene Symbol:AL356608.3
Accession:NR_160733
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004076332 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AL356608.3 CLINVAR
  AS3MT CLINVAR
  BORCS7-ASMT CLINVAR
OMIM 611806 CLINVAR