Variant #0000812038 (NC_000015.9:g.65931951C>T, NM_004727.2:c.1963C>T (SLC24A1))

Individual ID 00383926
Chromosome 15
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.65931951C>T
DNA change (hg38) g.65639613C>T
Published as SLC24A1 Ex4 c.1963C>T p.(Arg655*), Ex4 c.1963C>T p.(Arg655*)
ISCN -
DB-ID SLC24A1_000039
Variant remarks homozygous
Reference PubMed: Martin Merida 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-09-29 13:11:15 +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     
SLC24A1 NM_004727.2 +?/. Ex4 c.1963C>T r.(?) p.(Arg655*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000385151 DNA SEQ-NG-I - - SLC24A1 1 LOVD


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