Variant #0000085516 (NC_000017.10:g.39727776T>C, NM_000226.3:c.469A>G (KRT9))

Individual ID 00055548
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.39727776T>C
DNA change (hg38) g.41571524T>C
Published as -
ISCN -
DB-ID KRT9_000005 See all 5 reported entries
Variant remarks -
Reference PubMed: Covello 1998
ClinVar ID -
dbSNP ID rs58597584
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 17:18:19 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KRT9 NM_000226.3 +/. 1 c.469A>G r.(?) p.(Met157Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055501 DNA SEQ - - KRT9 1 Michel van Geel


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