RGD:156346118 Rat Genome Database

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Variant: RGD:156346118 -  Homo sapiens

RGD ID: 156346118
ClinVar ID: CV2300437
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLIC2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 154,508,512
GRCh38 X 155,279,223
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001289.6:c.508A>G
NG_012497.2:g.60455A>G
NC_000023.11:g.155279223T>C
NC_000023.10:g.154508512T>C
More... 		08/17/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLIC2
Accession:NM_001289
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGLRPGTQVDPEIELFVKAGSDGESIGNCPFCQRLFMILWLKGVKFNVTTVDMTRKPEELKDLAPGTNPPFLVYNKELK
TDFIKIEEFLEQTLAPPRYPHLSPKYKESFDVGCNLFAKFSAYIKNTQKEANKNFEKSLLKEFKRLDDYLNTPLLDEIDP
DSAEEPPVSGRLFLDGDQLTLADCSLLPKLNIIKVAAKKYRDFDIPAEFSGVWRYLHNAYAREEFTHTCPEDKEIENTYA
NVAKQKS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002900873 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CLIC2 CLINVAR
OMIM 300138 CLINVAR