Variant #0000822693 (NC_000001.10:g.111674130A>G, NM_178454.4:c.47T>C (DRAM2))

Individual ID 00391160
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.111674130A>G
DNA change (hg38) g.111131508A>G
Published as DRAM2 c.47T>C c.284G>T, p.Val16Ala p.Gly95Val
ISCN -
DB-ID DRAM2_000005 See all 3 reported entries
Variant remarks heterozygous
Reference PubMed: Gliem 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-13 11:00:19 +01:00 (CET)
Date last edited 2022-12-17 15:41:52 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DRAM2 NM_178454.4 +?/. 3 c.47T>C r.(?) p.(Val16Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000392402 DNA SEQ-NG-I blood whole exome sequencing DRAM2 2 LOVD


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