Variant #0000647844 (NC_000010.10:g.105800115C>T, COL17A1(NM_000494.3):c.2755G>A)

Individual ID 00289987
Chromosome 10
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.105800115C>T
DNA change (hg38) g.104040357C>T
Published as -
ISCN -
DB-ID COL17A1_000042 See all 2 reported entries
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs117564807
Origin Germline
Segregation -
Frequency 2/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00186 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 ?/. - c.2755G>A r.(?) p.(Asp919Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291155 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq