Variant #0000920099 (NC_000001.10:g.94586601T>C, NM_000350.2:c.1A>G (ABCA4))

Individual ID 00432916
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.94586601T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID ABCA4_000264 See all 41 reported entries
Variant remarks -
Reference Bianco 2023, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Lorenzo Bianco
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Lorenzo Bianco
Date created 2023-02-27 00:32:22 +01:00 (CET)
Date last edited 2023-02-27 11:18:53 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA4 NM_000350.2 +/. 1 c.1A>G r.? p.(Met1Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000434358 DNA SEQ-NG-I Peripheral Blood Sample - ABCA4 2 Lorenzo Bianco


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