Variant #0000829636 (NC_000023.10:g.18690154A>T, NM_000330.3:c.35T>A (RS1))

Individual ID 00396347
Chromosome X
Allele Maternal (inferred)
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.18690154A>T
DNA change (hg38) g.18672034A>T
Published as RS1 c.35T>A, p.(Leu12His)
ISCN -
DB-ID RS1_000016 See all 15 reported entries
Variant remarks -
Reference PubMed: Fahim 2017
ClinVar ID -
dbSNP ID -
Origin Unknown
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 2021-12-15 13:41:42 +01:00 (CET)
Date last edited 2021-12-15 13:44:43 +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 +?/. - c.35T>A r.(?) p.(Leu12His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000397588 DNA ? - retrospective study RS1 1 LOVD


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