Variant #0000798094 (NC_000006.11:g.35466243G>T, NC_000006.11(NM_003322.3):c.1496-6C>A (TULP1))

Individual ID 00382609
Chromosome 6
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.35466243G>T
DNA change (hg38) g.35498466G>T
Published as TULP1 c.1495+6T>C, p.(?), c.1496-6C>A, p.(?)
ISCN -
DB-ID TULP1_000041 See all 20 reported entries
Variant remarks -
Reference PubMed: Jespersgaar 2019
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 LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-09-09 12:39:39 +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     
0000383823 DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data TULP1 2 LOVD


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