Variant #0000281199 (NC_000012.11:g.14781687dup, GUCY2C(NM_004963.3):c.2158-8dup)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14781687dup
DNA change (hg38) g.14628753dup
Published as GUCY2C(NM_004963.4):c.2158-17_2158-16insT
ISCN -
DB-ID GUCY2C_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2C NM_004963.3 -/. - c.2158-8dup r.(=) p.(=)