Variant #0000987195 (NC_000006.11:g.35466243G>T, NC_000006.11(NM_003322.3):c.1496-6C>A (TULP1))

Individual ID 00451251
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35466243G>T
DNA change (hg38) g.35498466G>T
Published as -
ISCN -
DB-ID TULP1_000041 See all 20 reported entries
Variant remarks case unsolved
Reference PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-05-31 11:39:36 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TULP1 NM_003322.3 +/. - c.1496-6C>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000452850 DNA SEQ - smMIP-based 105 iMD/AMD genes - 2 Johan den Dunnen


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