RGD:401885641 Rat Genome Database

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Variant: RGD:401885641 -  Homo sapiens

RGD ID: 401885641
ClinVar ID: CV2783261
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDRT15L2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 20,483,758
GRCh38 17 20,580,445
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190790.2:c.562G>T
NC_000017.11:g.20580445G>T
NC_000017.10:g.20483758G>T
NM_001190790.1:c.562G>T
More... 		08/28/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDRT15L2
Accession:NM_001190790
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSCCFPTSRGCCFRNGGSESLFRQCRRRLIPHPRRLWPFVRRRTQVPQDSPGQALAGQATPEIPSGLPLHIVLVQEEIR
EPMEAQTHAPGPYADIAALAAPAVEPKPAWEEPPPERALEVEGAPAKDQPSQELPEIMAPTVATGLNAGAENVAGERSGR
EGVTSTAPASRSHAAPSPGHGGKHGGGYQGIQTGLLYLAGERLLSFAGTTALLLQGLFIVLILVGYISVKVMLKSIKTRL
GRRVPAAPPALRRNLLLQAWKCVCNWASRLFAPNVLPRTGS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003386763 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CDRT15L2 CLINVAR