Variant #0000990006 (NC_000023.10:g.74290297G>T, NM_004299.4:c.1271C>A (ABCB7))

Individual ID 00453420
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.74290297G>T
DNA change (hg38) g.75070462G>T
Published as -
ISCN -
DB-ID ABCB7_000035
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marketa Wayhelova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marketa Wayhelova
Date created 2024-08-25 13:08:07 +02:00 (CEST)
Date last edited 2024-09-25 19:49:31 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB7 NM_004299.4 +?/. 10 c.1271C>A r.(?) p.(Pro424His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000455031 DNA SEQ-NG-I peripheral blood WES - 1 Marketa Wayhelova


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