Variant #0000003764 (NC_000001.11:c.4G>A)

Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) c.4G>A
Published as CD 1 GTG>ATG
Reference ClinVar(OMIM 0266)
DB-ID chr1_000007
dbSNP ID rs33958358
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mohamad Fouzul Bin Mohd Yusoff
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Mohamad Fouzul Bin Mohd Yusoff
Date created 2022-10-31 12:08:16 +08:00 (CST)
Date last edited 2022-12-01 16:20:09 +08:00 (CST)
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Variant on transcripts

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Screenings

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