Variant #0000369427 (NC_000001.10:g.110170141G>A, NC_000001.10(NM_001257360.1):c.1112+1G>A (AMPD2))

Individual ID 00164824
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.110170141G>A
DNA change (hg38) g.109627519G>A
Published as -
ISCN -
DB-ID AMPD2_000022
Variant remarks compound heterozygous with c.1664C>T
Reference PubMed: Severino 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Ashley Marsh
Database submission license No license selected
Created by Ashley Marsh
Date created 2018-06-18 00:00:47 +02:00 (CEST)
Date last edited 2020-06-04 18:40:20 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AMPD2 NM_001257360.1 +?/. 4i c.1112+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165690 DNA SEQ-NG-I - - - 2 Ashley Marsh


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