RGD:405675390 Rat Genome Database

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Variant: RGD:405675390 -  Homo sapiens

RGD ID: 405675390
ClinVar ID: CV3286628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AS3MT  BORCS7-ASMT  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 104,650,386
GRCh38 10 102,890,629
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.971T>C
NC_000010.11:g.102890629T>C
NC_000010.10:g.104650386T>C
NR_037644.1:n.1376T>C
More... 		11/22/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYT19
Accession:NM_020682
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRDAEIQKDVQTYYGQVLKRSADLQTNGCVTTARPVPKHIREALQNVHEEVALRYYGCGLVIPEHLENCWILDLGSG
SGRDCYVLSQLVGEKGHVTGIDMTKGQVEVAEKYLDYHMEKYGFQASNVTFIHGYIEKLGEAGIKNESHDIVVSNCVINL
VPDKQQVLQEAYRVLKHGGELYFSDVYTSLELPEEIRTHKVLWGECLGGALYWKELAVLAQKIGFCPPRLVTANLITIQN
KELERVIGDCRFVSATFRLFKHSKTGPTKRCQVIYNGGITGHEKELMFDANFTFKEGEIVEVDEETAAILKNSRFAQDFL
IRPTGEKLPTSGGCSALELKDIITDPFKLAEESDSMKSRCVPDAAGGCCGTKKSC*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004420436 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AS3MT CLINVAR
  BORCS7-ASMT CLINVAR
OMIM 611806 CLINVAR