RGD:8570662 Rat Genome Database

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Variant: RGD:8570662 -  Homo sapiens

RGD ID: 8570662
RS ID: rs398122917
ClinVar ID: CV48422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLIC2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 154,509,348
GRCh38 X 155,280,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012497.2:g.59619C>G
NC_000023.11:g.155280059G>C
NC_000023.10:g.154509348G>C
NP_001280.3:p.His101Gln
More... 		05/04/2022 missense variant pathogenic|uncertain significance neonatal/infancy <1 / 1 000 000 AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLIC2
Accession:NM_001289
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGLRPGTQVDPEIELFVKAGSDGESIGNCPFCQRLFMILWLKGVKFNVTTVDMTRKPEELKDLAPGTNPPFLVYNKELK
TDFIKIEEFLEQTLAPPRYPQLSPKYKESFDVGCNLFAKFSAYIKNTQKEANKNFEKSLLKEFKRLDDYLNTPLLDEIDP
DSAEEPPVSRRLFLDGDQLTLADCSLLPKLNIIKVAAKKYRDFDIPAEFSGVWRYLHNAYAREEFTHTCPEDKEIENTYA
NVAKQKS*
Variant Samples
Additional References at PubMed
PMID:21630357   PMID:22814392  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000033043 CLINVAR
  RCV002247413 CLINVAR
dbSNP (RS) rs398122917 CLINVAR
MedGen C3550913 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLIC2 CLINVAR
OMIM 300138 CLINVAR
  300886 CLINVAR
OMIM Allele 300138.0001 CLINVAR