Genomic variant #0000085389

Individual ID 00055416
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.53070842C>T
DNA change (hg38) g.52677058C>T
Published as G4134A
ISCN -
DB-ID KRT1_000017
Variant remarks Full nomenclature: p.Q418_I419insICFSFYHSAVWNGGNPQNot found in 50 controls
Reference PubMed: Hatsell 2001
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 +/. 6i c.1254+1G>A - r.1254+1_1254+54ins p.(Gln418_Ile419ins18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055369 DNA;RNA RT-PCR;SEQ - - KRT1 1 Michel van Geel