Variant #0000656990 (NC_000012.11:g.112856920C>T, NM_002834.3:c.5C>T (PTPN11))

Chromosome 12
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.112856920C>T
DNA change (hg38) g.112419116C>T
Published as -
ISCN -
DB-ID PTPN11_000125 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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2024-08-28 13:16:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

CpG     

Enzyme activity     

mRNA level     

Protein level     
RPL6 NM_000970.3 +/. - - - - - c.-9530G>A r.(?) p.(=) - - - - -
PTPN11 NM_002834.3 +/. - - - - - c.5C>T r.(?) p.(Thr2Ile) - - - - -


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