Variant #0000805633 (NC_000012.11:g.14720554G>T, GUCY2C(NM_004963.3):c.*45497C>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14720554G>T
DNA change (hg38) -
Published as PLBD1(NM_024829.6):c.74_77delTGCCinsTGCA (p.P26Q)
ISCN -
DB-ID PLBD1_000001
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) 0.26851 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GUCY2C NM_004963.3 -?/. - c.*45497C>A r.(=) p.(=)
PLBD1 NM_024829.5 -?/. - c.77C>A r.(?) p.(Pro26Gln)