Genomic variant #0000085419

Individual ID 00055446
Chromosome 12
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.53072434G>A
DNA change (hg38) g.52678650G>A
Published as -
ISCN -
DB-ID KRT1_000046 See all 4 reported entries
Variant remarks -
Reference PubMed: Terron-Kwiatkowski 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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     
KRT1 NM_006121.3 +/. 2 c.698C>T - r.(?) p.(Ser233Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055399 DNA SEQ - - KRT1 1 Michel van Geel