RGD:8598736 Rat Genome Database

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Variant: RGD:8598736 -  Homo sapiens

RGD ID: 8598736
RS ID: rs121912304
ClinVar ID: CV26630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DKC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,993,780
GRCh38 X 154,765,505
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_55:g.7750C>T
NG_009780.1:g.7750C>T
NC_000023.11:g.154765505C>T
NC_000023.10:g.153993780C>T
More... 		11/01/2018 missense variant|non-coding transcript variant pathogenic neonatal none provided; Zinsser-Cole-Engman Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DKC1
Accession:NM_001288747
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDMSQWPLLLKNFDKLNVRTTHYTPLACGSNPLK
REIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV
LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK
HGKPTDSTPATWKQEYVDYR*

Gene Symbol:DKC1
Accession:NM_001142463
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDMSQWPLLLKNFDKLNVRTTHYTPLACGSNPLK
REIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV
LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK
HGKPTDSTPATWKQDESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLES
GAEPGDGDSDTTKKKKKKKKAKEVELVSE*

Gene Symbol:DKC1
Accession:NM_001363
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDMSQWPLLLKNFDKLNVRTTHYTPLACGSNPLK
REIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGV
LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDK
HGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE*

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

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

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

Variant Samples
Additional References at PubMed
PMID:10583221   PMID:11491307   PMID:14648217   PMID:19734544   PMID:19835419   PMID:20301779   PMID:24914498   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012349 CLINVAR
  RCV000254868 CLINVAR
  RCV000816060 CLINVAR
dbSNP (RS) rs121912304 CLINVAR
MedGen C0265965 CLINVAR
  C1148551 CLINVAR
  C3661900 CLINVAR
NCBI Gene DKC1 CLINVAR
OMIM 300126 CLINVAR
  305000 CLINVAR
OMIM Allele 300126.0010 CLINVAR
SNOMED CT 74911008 CLINVAR