RGD:13509040 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13509040 -  Homo sapiens

RGD ID: 13509040
RS ID: rs1555606338
ClinVar ID: CV482147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLTC  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 57,752,203
GRCh38 17 59,674,842
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.57752203A>T
NP_001275582.1:p.Arg858Ter
NG_047043.1:g.60154A>T
NC_000017.11:g.59674842A>T
More...
12/28/2017 nonsense likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CLTC
Accession:NM_004859
Location:EXON

Gene Symbol:CLTC
Accession:NM_001288653
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000578738 CLINVAR
dbSNP (RS) rs1555606338 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CLTC CLINVAR
OMIM 118955 CLINVAR