Variant #0000678766 (NC_000010.10:g.105792725A>G, COL17A1(NM_000494.3):c.4296T>C)

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.105792725A>G
DNA change (hg38) -
Published as COL17A1(NM_000494.4):c.4296T>C (p.T1432=)
ISCN -
DB-ID COL17A1_000056
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00105 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 -?/. - c.4296T>C r.(?) p.(Thr1432=)
SLK NM_014720.2 -?/. - c.*7247A>G r.(=) p.(=)