RGD:13809169 Rat Genome Database

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Variant: RGD:13809169 -  Homo sapiens

RGD ID: 13809169
RS ID: rs544669445
ClinVar ID: CV577202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 66,335,939
GRCh38 11 66,568,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032973.1:g.5109C>T
NC_000011.10:g.66568468G>A
NC_000011.9:g.66335939G>A
NP_003784.2:p.Leu7Phe
More... 		12/28/2020 missense variant uncertain significance CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE); none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSF
Accession:XM_011545328
Location:5UTRS;EXON

Gene Symbol:CTSF
Accession:NM_003793
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWLQFLSLLGLLPGAVAAPAQPRAASFQAWGPPSPELLAPTRFALEMFNRGRAAGTRAVLGLVRGRVRRAGQGSLYSL
EATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLLRKDCGPVDTKVPGAGEPKSAFTQGSAMISSLSQNHPDNRN
ETFSSVISLLNEDPLSQDLPVKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQKIQALDRGTAQYGVTKFSDLT
EEEFRTIYLNTLLRKEPGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSVTGNVEGQWFLNQGTLLSLSE
QELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQGHMQSCNFSAEKAKVYINDSVELSQNEQKLAAWLAKRGPI
SVAINAFGMQFYRHGISRPLRPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASS
AVVD*
Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711338 CLINVAR
  RCV002532911 CLINVAR
  RCV002534495 CLINVAR
dbSNP (RS) rs544669445 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C3715049 CLINVAR
NCBI Gene CTSF CLINVAR
OMIM 603539 CLINVAR
  615362 CLINVAR