RGD:8604107 Rat Genome Database

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Variant: RGD:8604107 -  Homo sapiens

RGD ID: 8604107
RS ID: rs121912298
ClinVar ID: CV47535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DKC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 154,001,419
GRCh38 X 154,773,144
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_55t1:c.1050G>A
LRG_55:g.15389G>A
NG_009780.1:g.15389G>A
NC_000023.11:g.154773144G>A
More...
05/10/2012 2kb upstream variant|missense variant|non-coding transcript variant pathogenic|not provided neonatal Zinsser-Cole-Engman Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DKC1
Accession:NM_001363
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLK
REIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV
LRYEDGIEVNQEIVVITTKGEAICMAIALITTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK
HGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE*

Gene Symbol:DKC1
Accession:NM_001142463
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLK
REIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV
LRYEDGIEVNQEIVVITTKGEAICMAIALITTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK
HGKPTDSTPATWKQDESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLES
GAEPGDGDSDTTKKKKKKKKAKEVELVSE*

Gene Symbol:DKC1
Accession:NM_001288747
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLK
REIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV
LRYEDGIEVNQEIVVITTKGEAICMAIALITTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK
HGKPTDSTPATWKQEYVDYR*

Gene Symbol:DKC1
Accession:NR_110021
Location:EXON;NON-CODING

Gene Symbol:DKC1
Accession:NR_110022
Location:EXON;NON-CODING

Gene Symbol:DKC1
Accession:NR_110023
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10364516   PMID:20301779  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000032183 CLINVAR
dbSNP (RS) rs121912298 CLINVAR
MedGen C1148551 CLINVAR
NCBI Gene DKC1 CLINVAR
OMIM 300126 CLINVAR
  305000 CLINVAR