Variant #0000612248 (NC_000010.10:g.105794415C>T, COL17A1(NM_000494.3):c.3730G>A)

Chromosome 10
Allele Unknown
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.105794415C>T
DNA change (hg38) g.104034657C>T
Published as COL17A1(NM_000494.4):c.3730G>A (p.D1244N)
ISCN -
DB-ID COL17A1_000049
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) 0.00032 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL17A1 NM_000494.3 ?/. - c.3730G>A r.(?) p.(Asp1244Asn)