Variant #0000909533 (NC_000016.9:g.68386217T>C, NM_019023.2:c.1480T>C (PRMT7))

Individual ID 00428458
Chromosome 16
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68386217T>C
DNA change (hg38) g.68352314T>C
Published as -
ISCN -
DB-ID PRMT7_000044 See all 2 reported entries
Variant remarks ACMG PS1, PM1, PM2, PP2, PP3
Reference PubMed: Akawi 2015, PubMed: Cali 2022
ClinVar ID -
dbSNP ID rs751670999
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-01-03 19:34:32 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRMT7 NM_019023.2 +?/. 15 c.1480T>C r.(?) p.(Trp494Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000429870 DNA SEQ - - - 2 Johan den Dunnen


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