Variant #0000703363 (NC_000007.13:g.44151537T>C, NM_001129.4:c.1925T>C (AEBP1))

Individual ID 00319461
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44151537T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID AEBP1_000004
Variant remarks -
Reference PubMed: Ritelli et al., 2019
ClinVar ID -
dbSNP ID rs753531562
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Marco Ritelli, Marina Colombi
Database submission license No license selected
Created by Marco Ritelli, Marina Colombi
Date created 2018-11-16 11:12:08 +01:00 (CET)
Date last edited 2019-05-02 13:53:23 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
AEBP1 NM_001129.4 +/+ 16 c.1925T>C r.? p.(Leu642Pro) missense substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000320642 DNA PCR;SEQ - - AEBP1 1 Marco Ritelli, Marina Colombi


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