Variant #0000812647 (NC_000023.10:g.18690163A>T, NM_000330.3:c.26T>A (RS1))

Individual ID 00384337
Chromosome X
Allele Unknown
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.18690163A>T
DNA change (hg38) g.18672043A>T
Published as c.26A>T, p.(Leu9*)
ISCN -
DB-ID RS1_000296
Variant remarks error in annotation: c.26A>T instead of T>A, hemizygous
Reference PubMed: Wang 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-09-29 13:19:55 +02:00 (CEST)
Date last edited 2021-12-10 17:09:09 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RS1 NM_000330.3 +?/. 1 c.26T>A r.(?) p.(Leu9*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000385562 DNA SEQ-NG blood panel of 126 genes RS1 1 LOVD


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