Variant #0000001563 (NC_000003.11:g.49457642A>G, NC_000003.11(NM_000481.3):c.471+2T>C (AMT))

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49457642A>G
DNA change (hg38) g.49420209A>G
Published as -
ISCN -
DB-ID AMT_000016 See all 6 reported entries
Variant remarks 1 Caucasian GCE family (P31; com-het)
Reference PubMed: Kure et al. 2006
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Anne Polvi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Anne Polvi
Date created 2012-08-31 09:47:27 +02:00 (CEST)
Date last edited 2020-06-15 10:02:02 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AMT NM_000481.3 +/+ 4i c.471+2T>C r.spl? p.?


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