Variant #0000722661 (NC_000010.10:g.105797446G>A, COL17A1(NM_000494.3):c.3156C>T)

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.105797446G>A
DNA change (hg38) -
Published as COL17A1(NM_000494.4):c.3156C>T (p.G1052=)
ISCN -
DB-ID COL17A1_000059
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 View details
Owner VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 +/. - c.3156C>T r.(?) p.(Gly1052=)