RGD:13830402 Rat Genome Database

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Variant: RGD:13830402 -  Homo sapiens

RGD ID: 13830402
RS ID: rs776247858
ClinVar ID: CV579743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 66,333,590
GRCh38 11 66,566,119
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.7458C>T
NC_000011.9:g.66333590G>A
NC_000011.10:g.66566119G>A
NP_003784.2:p.Pro257Leu
More... 		03/13/2016 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSF
Accession:XM_011545328
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPARWTNRSLAGQGSLYSLEATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLLRKDCGPVDTKVPGAGEPKSA
FTQGSAMISSLSQNHPDNRNETFSSVISLLNEDPLSQDLPVKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQK
IQALDRGTAQYGVTKFSDLTEEEFRTIYLNTLLRKELGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSV
TGNVEGQWFLNQGTLLSLSEQELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQGHMQSCNFSAEKAKVYINDS
VELSQNEQKLAAWLAKRGPISVAINAFGMQFYRHGISRPLRPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEK
GYYYLHRGSGACGVNTMASSAVVD*

Gene Symbol:CTSF
Accession:NM_003793
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPWLQLLSLLGLLPGAVAAPAQPRAASFQAWGPPSPELLAPTRFALEMFNRGRAAGTRAVLGLVRGRVRRAGQGSLYSL
EATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLLRKDCGPVDTKVPGAGEPKSAFTQGSAMISSLSQNHPDNRN
ETFSSVISLLNEDPLSQDLPVKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQKIQALDRGTAQYGVTKFSDLT
EEEFRTIYLNTLLRKELGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSVTGNVEGQWFLNQGTLLSLSE
QELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQGHMQSCNFSAEKAKVYINDSVELSQNEQKLAAWLAKRGPI
SVAINAFGMQFYRHGISRPLRPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASS
AVVD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002317524 CLINVAR
dbSNP (RS) rs776247858 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CTSF CLINVAR
OMIM 603539 CLINVAR