Variant #0001019658 (NC_000023.10:g.18690188T>A, NM_000330.3:c.1A>T (RS1))

Individual ID 00459018
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.18690188T>A
DNA change (hg38) g.18672068T>A
Published as [35T>A;52+5G>C]
ISCN -
DB-ID RS1_000160 See all 8 reported entries
Variant remarks ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4
Reference PubMed: Bender 2022
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-12-24 08:52:01 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RS1 NM_000330.3 +/. 1 c.1A>T r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000460639 DNA SEQ - - RS1 1 Johan den Dunnen


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