Variant #0000130420 (NC_000010.10:g.97605168G>A, NM_001776.5:c.628G>A (ENTPD1))

Individual ID 00081212
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.97605168G>A
DNA change (hg38) g.95845411G>A
Published as G649A (G217R)
ISCN -
DB-ID ENTPD1_000001 See all 2 reported entries
Variant remarks -
Reference PubMed: Novarino 2014, Journal: Novarino 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Wietske Wesseling
Database submission license No license selected
Created by Wietske Wesseling
Date created 2016-09-22 13:22:02 +02:00 (CEST)
Date last edited 2016-09-26 09:30:53 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ENTPD1 NM_001776.5 +/. 6 c.628G>A r.(?) p.(Gly210Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081324 DNA SEQ-NG - - ENTPD1 1 Wietske Wesseling


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