Variant #0000367977 (NC_000001.10:g.45797523T>C, NC_000001.10(NM_001128425.1):c.998-2A>G (MUTYH))

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.45797523T>C
DNA change (hg38) g.45331851T>C
Published as 956-2A>G (Ala319_Ser381del)
ISCN -
DB-ID MUTYH_000121 See all 2 reported entries
Variant remarks -
Reference DUPLICATE – to be removed
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-04-06 17:05:13 +02:00 (CEST)
Date last edited 2019-02-22 12:09:43 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 11i c.998-2A>G r.(998_1186del) p.(Ala333_Ser395del) -


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