Genomic variant #0000085500

Individual ID 00055532
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.39727758G>A
DNA change (hg38) g.41571506G>A
Published as R162W
ISCN -
DB-ID KRT9_000003 See all 23 reported entries
Variant remarks -
Reference PubMed: Reis 1994, OMIM:var0001
ClinVar ID -
dbSNP ID rs59616921
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Michel van Geel




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KRT9 NM_000226.3 +/. 1 c.487C>T - r.(?) p.(Arg163Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055485 DNA SEQ - - KRT9 1 Michel van Geel