Variant #0000525069 (NC_000005.9:g.156899456G>A, NM_001037332.2:c.*79448G>A (CYFIP2))

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.156899456G>A
DNA change (hg38) g.157472448G>A
Published as -
ISCN -
DB-ID CYFIP2_000011
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYFIP2 NM_001037332.2 +/. - c.*79448G>A r.(=) p.(=)
NIPAL4 NM_001099287.1 +/. - c.889G>A r.(?) p.(Gly297Arg)
ADAM19 NM_033274.3 +/. - c.*8501C>T r.(=) p.(=)


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