RGD:8572590 Rat Genome Database

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Variant: RGD:8572590 -  Homo sapiens

RGD ID: 8572590
RS ID: rs397514731
ClinVar ID: CV75250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 66,333,304
GRCh38 11 66,565,833
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_032973.1:g.7744A>G
NC_000011.10:g.66565833T>C
NC_000011.9:g.66333304T>C
NP_003784.2:p.Gln321Arg
More... 		05/25/2016 missense|missense variant pathogenic adulthood <1 / 1 000 000 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSF
Accession:XM_011545328
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPARWTNRSLAGQGSLYSLEATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLLRKDCGPVDTKVPGAGEPKSA
FTQGSAMISSLSQNHPDNRNETFSSVISLLNEDPLSQDLPVKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQK
IQALDRGTAQYGVTKFSDLTEEEFRTIYLNTLLRKEPGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSV
TGNVEGQWFLNQGTLLSLSERELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQGHMQSCNFSAEKAKVYINDS
VELSQNEQKLAAWLAKRGPISVAINAFGMQFYRHGISRPLRPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEK
GYYYLHRGSGACGVNTMASSAVVD*

Gene Symbol:CTSF
Accession:NM_003793
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWLQLLSLLGLLPGAVAAPAQPRAASFQAWGPPSPELLAPTRFALEMFNRGRAAGTRAVLGLVRGRVRRAGQGSLYSL
EATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLLRKDCGPVDTKVPGAGEPKSAFTQGSAMISSLSQNHPDNRN
ETFSSVISLLNEDPLSQDLPVKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQKIQALDRGTAQYGVTKFSDLT
EEEFRTIYLNTLLRKEPGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSVTGNVEGQWFLNQGTLLSLSE
RELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQGHMQSCNFSAEKAKVYINDSVELSQNEQKLAAWLAKRGPI
SVAINAFGMQFYRHGISRPLRPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASS
AVVD*
Variant Samples
Additional References at PubMed
PMID:23297359   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000054490 CLINVAR
dbSNP (RS) rs397514731 CLINVAR
MedGen C3715049 CLINVAR
NCBI Gene CTSF CLINVAR
OMIM 603539 CLINVAR
  615362 CLINVAR
OMIM Allele 603539.0001 CLINVAR