Variant #0000085487 (NC_000017.10:g.38975802T>G, NM_000421.3:c.1340A>C (KRT10))

Individual ID 00055514
Chromosome 17
Allele Parent #1
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.38975802T>G
DNA change (hg38) g.40819550T>G
Published as -
ISCN -
DB-ID KRT10_000025
Variant remarks -
Reference PubMed: Sheth 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Michel van Geel
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Michel van Geel
Date created 2011-10-23 17:05:03 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KRT10 NM_000421.3 +/. 6 c.1340A>C r.(?) p.(Gln447Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055467 DNA SEQ - - KRT10 1 Michel van Geel


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.