Variant #0001046904 (NC_000008.10:g.11395813T>C, NC_000008.10(NM_001715.2):c.-1-4920T>C (BLK))

Individual ID 00466039
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.11395813T>C
DNA change (hg38) g.11538304T>C
Published as -
ISCN -
DB-ID BLK_000059
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Larry Baum
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Larry Baum
Date created 2025-07-13 09:11:29 +02:00 (CEST)
Date last edited 2025-08-18 14:03:24 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BLK NM_001715.2 ?/. - c.-1-4920T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000467692 DNA MS;SEQ-NG-I blood - - 6 Larry Baum


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