Variant #0000888211 (NC_000008.10:g.144998626G>A, NM_000445.3:c.5552C>T (PLEC))

Chromosome 8
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.144998626G>A
DNA change (hg38) -
Published as PLEC(NM_000445.3):c.5552C>T (p.(Ala1851Val))
ISCN -
DB-ID PLEC_000351 See all 2 reported entries
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) 0.00135 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2022-11-01 13:01:21 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLEC NM_000445.3 -?/. - c.5552C>T r.(?) p.(Ala1851Val)
PLEC NM_201384.1 -?/. - c.5471C>T r.(?) p.(Ala1824Val)


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