Variant #0000667122 (NC_000023.10:g.15590348G>C, NM_021804.2:c.1640C>G (ACE2))

Individual ID 00302614
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15590348G>C
DNA change (hg38) g.15572225G>C
Published as -
ISCN -
DB-ID ACE2_000029
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner Alessandra Renieri
Database submission license No license selected
Created by Alessandra Renieri
Date created 2020-05-26 16:31:43 +02:00 (CEST)
Date last edited 2020-07-17 19:17:54 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACE2 NM_021804.2 ?/. - c.1640C>G r.(?) p.(Ser547Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000303738 DNA SEQ-NG-I - - ACE2 1 Alessandra Renieri


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