Variant #0000673966 (NC_000010.10:g.105796367G>A, COL17A1(NM_000494.3):c.3301C>T)

Individual ID 00306211
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.105796367G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID COL17A1_000054
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 +?/. - c.3301C>T r.(?) p.(Arg1101Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307344 DNA SEQ-NG - - COL17A1 2 Sha Hong